Craniofacial 01-22, 24 Flashcards

Question

Patients with which of the following conditions have the highest incidence of accessory auricle? A) Apert syndrome B) Goldenhar syndrome C) Treacher Collins syndrome D) VACTERL association E) Van der Woude syndrome

Answer 1

The correct response is Option B. In a recent review of the literature about congenital accessory auricle, patients with Goldenhar syndrome were found to have an accessory auricle reported 100% of the time. Of the options listed, VACTERL (Vertebral, Anal, Cardiac, Tracheal, Esophageal, Renal, and Limb association) has the lowest association with an accessory auricle at 16%. Patients with VACTERL typically are found to have vertebral defects, anal atresia, cardiac anomalies, tracheoesophageal fistula, renal anomalies, and limb differences. Patients with Treacher Collins syndrome are found to have an accessory auricle present 30 to 40% of the time. These patients often have mandibular hypoplasia, zygomatic hypoplasia, external ear anomalies, conductive hearing loss, eyelid colobomas, cleft palate, and dental anomalies. It is associated with several different genes, including TCOF1, POLR1C, and POLR1D. Patients with Apert syndrome and Van Der Woude syndromes do not typically have accessory auricles.

Answer 2

The correct response is Option A. 22q11.2 Deletion syndrome (also referred to as DiGeorge syndrome, velocardiofacial syndrome, and CATCH-22) is a congenital disorder caused by the deletion of a segment of chromosome 22. Symptoms of this syndrome often include anomalous carotid arteries and conotruncal cardiac abnormalities such as truncus arteriosus and tetralogy of Fallot. The prevalence of atrial septal defect (ASD) has been reported to be 12% in patients with velocardiofacial syndrome. Other symptoms and findings include absent or hypoplastic thymus, developmental delay, cleft palate, and hypocalcemia related to hypoparathyroidism. Patients with velocardiofacial syndrome also have abnormal facial features including a broad nasal root, low-set ears, retrognathia, elongated face or maxillary excess, and epicanthal folds. Overjet and retinal detachment are not associated with velocardiofacial syndrome. Hypothyroidism is not as common as hypocalcemia in this patient population.

Answer 3

The correct response is Option D. Frontal sinus development is associated with specific age-related periods of growth of the skull. The frontal sinus is absent at birth and during the initial phase of growth of the skull. The sinus is visible only in x-ray studies at the end of the first period of skull growth. This is the time when the endocranial table of the skull ceases to grow and conforms to the general shape of the brain. This is not seen on x-ray studies until 6 years of age or 72 months.

Answer 4

The correct response is Option C. Patients with Treacher Collins syndrome may have a varied presentation. The mandible hypoplasia may be mild or severe. In this case the patient has no temporomandibular fossa or condyles. Tongue-lip adhesion and mandibular distraction are used in severe Pierre Robin sequence. Because of the absence of condyles and temporal mandibular joints, distraction, and sagittal split osteotomy are not the best options. A costochondral graft will provide better airway support and can also be distracted in the future.

Answer 5

The correct response is Option E. Tessier No. 3 and No. 4 are medial to the infraorbital nerve, but Tessier No. 5 is lateral. Tessier No. 3 involves clefts of the nose, orbit, and lip (naso-oral-ocular cleft), whereas Tessier No. 4 involves the lip and orbit (oral-ocular cleft), and the nose is uninvolved. Tessier No. 5 involves oral, cheek (maxillary sinus), and orbital cleft and is the rarest.

Answer 6

The correct response is Option D. Positional plagiocephaly is very common since the American Academy of Pediatrics began the 'back to sleep' campaign to decrease sudden infant death syndrome in 1992. Occipital flattening is the most common type seen. Positional plagiocephaly risk factors include prematurity, intrauterine position, congenital muscular torticollis, plural birth, motor delays, and hypotonia. Ventriculoperitoneal (VP) shunts may induce a secondary craniosynostosis if over-shunting occurs. Scaphocephaly head shape without craniosynostosis is noted in the premature babies in the NICU due to positioning and tone. This corrects with growth, increased tone, and repositioning. Presence of a VP shunt does not lead to the head shape of scaphocephaly without craniosynostosis but may be seen in children after intraventricular hemorrhage in the NICU. Scaphocephaly without craniosynostosis does occur in older infants and children but is not known to be a hereditary condition. Both ocular torticollis and congenital muscular torticollis can cause a head tilt and are associated with deformational plagiocephaly. Fibromatosis colli is seen with severe muscular torticollis and is associated with plagiocephaly.

Answer 7

The correct response is Option A. Autologous bone is the most appropriate material for inlay cranioplasty for a child this age. Each of the other options has been used in the pediatric population, but they carry important limitations. Porous polyethylene can be used to reconstruct large cranial defects, but is expensive to fabricate, has the potential to become unstable in a growing cranium, and has a higher overall infection rate than autologous bone. Bone morphogenetic protein (BMP) has shown promise in animal models for inducing bone formation in large cranial defects, but it is expensive for a defect of this size; it is a powerful mitogen and can result in dural ossification and, potentially, induction of tumor growth. Calcium phosphate pastes also have been advocated but are very expensive and for a defect of this size, the long-term potential osseointegration is dubious. Furthermore, the risk of infection and/or implant extrusion is higher. Titanium mesh may be appropriate for some children with limited life expectancy or functional needs, but these implants can be bent, offer limited impact resistance, and have a higher overall rate of complications than autologous bone.

Answer 8

The correct response is Option D. The patient described meets the criteria for neurofibromatosis 1 by clinical diagnosis. Genetic testing is also possible. To make a clinical diagnosis, two or more of the following criteria are required: Six or more café au lait spots 5 mm or larger (prepubertal) or 15 mm or larger (post-pubertal) Family history Two or more neurofibromas Freckling in armpits or groin Lisch nodules Bony dysplasia (sphenoid wing in this case) Tumor on optic nerve A patient with Goldenhar syndrome has facial asymmetry, but does not have café au lait spots. Colobomas are common in patients with this syndrome, but Lisch nodules are not. Muenke syndrome is associated with craniosynostosis. Kabuki syndrome has distinctive associated facial features with long palpebral fissures, everted lower lids, broad nasal tip, arched brows, protruding ears, intellectual disability, and often microcephaly. Nevus sebaceous is a well-circumscribed hamartomatous lesion composed of sebaceous glands. There is a risk for malignant transformation.

Answer 9

The correct response is Option A. Since the early 1990's when positional deformational cranial deformities were first identified with the "back-to-sleep" campaigns, they have now become the most common etiology of cranial and facial asymmetry. Prior to that time, torticollis was the most common cause. Craniosynostosis is a much less frequent cause and occurs in the following order of decreasing frequency: unicoronal, lambdoid, zygomaticotemporal. Correct identification of most of the causes of this clinical constellation of findings can be made on clinical examination, but most would still get a CT scan to verify the diagnosis and rule out associated anomalies except for torticollis, which is always a clinical diagnosis.

Answer 10

The correct response is Option C. The mechanism of palatal shelf formation must be regulated precisely so that vertical palatal shelves are adhesion-incompetent while they are in close contact with other structures, but once they are raised above the tongue, they rapidly acquire adhesion capability if they are not to remain cleft. Control of periderm differentiation by the membrane-bound signalling molecule jagged 2 (JAG2) is important in this process. Another factor central to this process is interferon regulatory factor 6 (IRF6). The gene IRF6, which has a causal association with van der Woude syndrome, is also linked strongly to the isolated form of clefting. This finding has been replicated in many different populations and ethnic groups. Variants of genes linked to syndromic forms of cleft lip with or without cleft palate that have a mendelian mode of inheritance can also produce phenocopies of non-syndromic clefts. This observation suggests that a strategy of choosing variants of genes associated with syndromic forms of cleft lip with or without cleft palate as candidates for investigations into the cause of non-syndromic clefts could be productive. Other examples of mendelian-inherited syndromes and related genes that, if mutated, could result in or modify the expression of cleft lip with or without cleft palate include Kallmann syndrome (FGFR1), ectrodactyly, ectodermal dysplasia, and clefting syndrome (TP63), X-linked clefting and ankyloglossia (TBX22), Gorlin syndrome (PTCH1), and Margarita Island ectodermal dysplasia (PVRL1[heterozygous]). Although discovery of the genetic cause of van der Woude or popliteal pterygium syndromes will have no immediate therapeutic benefit, advantages for diagnosis are instant, and this knowledge will be potentially useful in genetic counseling. If one gene mutation, which can be identified by prenatal diagnosis, causes cleft lip, cleft lip and palate, or cleft palate alone in a proportion of people, identification of individuals at high risk for having children with the same defect will be possible.

Answer 11

The correct response is Option B. The patient described has benign or idiopathic masseter hypertrophy. The classic patient comes to the office because of aesthetic complaints but is otherwise asymptomatic. There are numerous treatments, including partial myotomy, mandibular angle reduction, and contralateral augmentation. Of all the options, the best is botulinum toxin type A injections. These injections are minimally invasive and reversible, and they do not require an anesthetic. On the basis of its low–risk profile, it is the best first-line treatment listed. Amyloidosis is a progressive systemic disease that can cause myopathy and painful bilateral masseter hypertrophy. It is unlikely in this stable, unilateral case. Bruxism can cause masseter hypertrophy, which is most often bilateral. A bite guard will prevent tooth damage, but it will not correct hypertrophy.

Answer 12

The correct response is Option E. Saethre-Chotzen syndrome is an autosomal dominant disorder associated with TWIST1 gene mutation. It causes an asymmetrical brachycephaly, bicoronal or unicoronal synostosis, low frontal hairline, ptosis of the eyelids, and a prominent crus of helix. Crouzon syndrome is an autosomal dominant disorder associated with an FGFR2 gene mutation. The patient with this syndrome typically comes to the office because of hydrocephalus, elevated intracranial pressure, Chiari I malformation, bicoronal synostosis and brachycephaly, exorbitism, mid-face hypoplasia, anterior open bite, and normal extremities. Apert syndrome is an autosomal dominant disorder and shows symptoms of elevated intracranial pressure, bicoronal synostoses, turribrachycephaly, enlarged anterior fontanel, bitemporal widening, occipital flattening, anterior open bite, and complex syndactyly of the hands and feet. Pfeiffer syndrome is also an autosomal dominant disorder associated with FGFR2 mutation and reveals symptoms of hydrocephalus and a high risk of Chiari malformation, turribrachycephaly with bicoronal synostoses, exorbitism, hypertelorism, down-slanting palpebral fissures, an anterior open bite, and broad thumbs and/or broad halluces. Muenke syndrome is associated with the FGFR3 gene mutation and comes to the office with coronal synostosis, elevated intracranial pressure, sensorineural hearing loss, and abnormal middle phalanges.

Answer 13

The correct response is Option D. Crouzon-related obstructive sleep apnea and increased intracranial pressure are best treated with frontofacial advancement without adjustment of the orbital width, which is best achieved using the monobloc osteotomy. Orbital box osteotomy will not treat increased intracranial pressure or sleep apnea. Le Fort III osteotomy will treat obstructive sleep apnea but will minimally affect increased intracranial pressure. Lastly, facial bipartition osteotomy is not needed in this case because of the normal intercanthal distance and lack of telorbitism. Le Fort I addresses neither the orbits nor the intracranial pressure.

Answer 14

The correct response is Option C. The patient described has Goldenhar syndrome, a severe form of hemifacial microsomia with variable ear anomalies, mandibular hypoplasia leading to occlusal cant and oral commissure asymmetry, and soft-tissue deficiency on the affected side. Ocular findings associated with Goldenhar syndrome are variable and common (50% incidence) and can occur as epibulbar dermoids as described in this patient as well as microphthalmia, eyelid and optic nerve colobomas (interruption of a circular structure of the eye). Colobomas can be asymptomatic (affecting the iris alone), can lead to exposure keratopathy (in the case of eyelid colobomas), or can lead to visual disturbances (optic disc/nerve coloboma), such as visual field deficits or amblyopia. Care must be taken to identify visual disturbances early in order to implement contralateral eye penalization, or patching, to maximize visual development of the affected eye. The other tests target areas that are not affected in patients with Goldenhar syndrome.

Answer 15

The correct response is Option D. Treacher Collins syndrome, named after Edward Treacher Collins, the English ophthalmologist who first described this condition in 1900, is characterized by widely varying degrees of micrognathia, underdevelopment and/or clefting of the midfacial bones (e.g., zygoma), microtia or anotia with or without hearing loss or middle ear atresia, eyelid coloboma, and often respiratory compromise. It occurs with an estimated frequency of 1:50,000 live births, and the overwhelming majority of cases are caused by an autosomally inherited mutation in the TCOF1 gene that leads to underproduction of treacle protein, a neural crest precursor. Mutations in FGFR2, FGFR3, TWIST1, and EFNB genes are commonly associated with syndromic forms of craniosynostosis. Gain-of-function mutations in the fibroblast growth factor receptors (FGFR) can lead to various syndromes that manifest craniosynostosis including: Apert syndrome (FGFR2), Pfeiffer syndrome (FGFR1 and FGFR2), Crouzon syndrome (FGFR2), Jackson–Weiss syndrome (FGFR2), Muenke syndrome (FGFR3), Crouzonodermoskeletal syndrome (FGFR3), and thanatophoric dysplasia (FGFR3). TWIST1 loss-of-function mutations can lead to another craniosynostosis syndrome—Saethre-Chotzen syndrome. EFNB1 mutations are associated with craniofrontonasal syndrome, an X-linked disorder characterized by hypertelorism, craniosynostosis, clefting of the nasal tip, and digital anomalies.

Answer 16

The correct response is Option B. Romberg disease, also known as progressive hemifacial atrophy (PHA), is an acquired disease causing severe deformity of the facial contour. The therapeutic goals of surgery for patients with PHA are to minimize psychosocial effects and to correct the appearance and function of involved facial structures. PHA usually presents in the first 20 years of life, after which it is slowly progressive but self-limited. The atrophy affects subcutaneous tissue, fat, muscle, and osteocartilaginous structures, creating a sunken hemiface appearance. Epidermal cutaneous involvement is minimal, but the tongue, gingiva, teeth, and palate may also be involved. For cases with minimal-to-moderate soft-tissue defects, autologous fat grafting can provide correction of the contour deformities. For more severe soft-tissue deficits, additional or other modalities such as adipofascial free flaps can be used. In more severe cases with skeletal and/or dental abnormalities, interventions such as distraction osteogenesis and bone grafting may be necessary. The injection of free silicone is not recommended and has been replaced by the use of autologous fat and other injectable substances. Hyaluronic acid may provide a temporary solution, but it is costly.

Answer 17

The correct response is Option C. The patient pictured has a rare craniofacial (Tessier No. 4) cleft. Rare craniofacial clefts are characterized by variable soft-tissue and bony involvement. This patient has a cleft lip that begins lateral to the philtral column and courses laterally to the alar margin. Additionally, this patient has soft-tissue deficiency of the left medial malar region, as well as medial lower lid malposition and medial canthal dystopia. Of all of the options given, these findings suggest an increased risk for nasolacrimal duct abnormalities or inferior canalicular system malposition. Velopharyngeal dysfunction is common in patients with cleft lip and palate. Anosmia can be present in midline craniofacial anomalies, such as craniofrontonasal dysplasia. Rare craniofacial (Tessier No. 4) clefts are not associated with sensorineural hearing loss or craniosynostosis.

Answer 18

The correct response is Option B. In this circumstance, the surgeon should wash the graft with sterile triple antibiotic solution (0.1% gentamicin, 0.1% clindamycin, 0.05% polymyxin) and consider reusing it. This graft is not easily re-harvestable, and therefore reusing it is a reasonable alternative. Triple antibiotic solution is readily available and nontoxic to the bone graft, unlike iodine and chlorhexidine. Studies have shown that iodine does not have the antimicrobial effectiveness of other antimicrobials. Studies also show that while chlorhexidine is most effective in eradicating the microorganisms from the graft, its detrimental effect on corticocancellous bone prevents its use in this clinical scenario. If the dropped graft were skin, cartilage, or composite tissue, chlorhexidine would be the ideal antimicrobial. Discarding the graft is not the ideal alternative given the extremely low likelihood of infection if reused after appropriate decontamination. In this clinical scenario, alloplastic materials are contraindicated due to the patient's age. One should change the wound classification from 1 to 3, not 4. Steam sterilization is not used for such grafts in such an acute setting and this technique would potentially harm the graft.

Answer 19

The correct response is Option B. Polymethylmethacrylate polymerization is an exergonic or exothermic reaction. The heat generated can cause injury or necrosis of the surrounding soft tissues and bone. Saline irrigation is an effective method of heat dissipation during this process. The toxic byproducts of polymerization include cyanide gas in small amounts that are dissipated by normal operating room ventilation or suction. Water is not a necessary cofactor for the polymerization process. Reduction of bacterial burden is a rationale for irrigation in general but does not play a specific role in this clinical setting. The dielectric constant of the substrate is elevated or unchanged by the irritant and this is unlikely to have an effect on the polymerization process.

Answer 20

The correct response is Option A. Syndromic craniosynostosis often presents with findings in the hands and feet, sometimes referred to as acrocephalosyndactyly. Apert syndrome is unique for having bilateral symmetric complex syndactylies involving nearly all digits, of both the hands and feet. Crouzon syndrome usually has normal hands and feet. Jackson-Weiss can have foot anomalies, such as short metatarsals. Pfeiffer syndrome usually has broad thumbs and toes. Saethre-Chotzen syndrome may have incomplete single syndactylies, but otherwise does not typically have extremity findings.

Answer 21

The correct response is Option E. This patient has a metopic ridge and would not be correctly classified as having the phenotype associated with pathologic metopic closure—trigonocephaly. Consequently, observation is the only correct answer. Thickening of the metopic suture is a normal variant and should not be interpreted as abnormal unless it is accompanied by frontal narrowing and retrusion of the superior-lateral orbital rims. These findings are not present in this patient. The metopic suture closes normally within the first year of life, so the presence of a fused metopic suture on CT scan in a child this age is not necessarily abnormal. The degree of frontal narrowing required to classify a patient as having pathologic cranial shape is a matter of much debate and is not settled. Some authors point to the importance of additional clinical (hypotelorism, biparietal widening) or radiographic (endocortical thickening or omega sign on CT) findings to secure the diagnosis of metopic craniosynostosis. The other responses are surgical interventions and should be invoked only in the context of pathologic metopic closure and resultant trigonocephaly. Endoscopic suturectomy and postoperative helmet therapy, spring-mediated frontal distraction, and fronto-orbital advancement are all viable options to correct the frontal narrowing associated with trigonocephaly. Total calvarial remodeling is rarely if ever required to correct trigonocephaly.

Answer 22

The correct response is Option A. Proboscis lateralis, which is illustrated in the photograph, is thought to be a failure of fusion between the lateral and maxillary nasal processes. A cleft lip is the result of a failure of fusion of the maxillary prominence with the medial nasal prominence. A midline cleft or Tessier Zero cleft is a result of the failure of fusion of the medial nasal prominences. Choanal atresia is a result of a failure of the oronasal membrane to rupture. Finally, a mandibular cleft or Tessier # 30 cleft is a result of the failure of fusion of the mandibular prominences.

Answer 23

The correct response is Option B. The relationship between morphea en coup de sabre and Parry-Romberg syndrome is unclear but there is some overlap. Morphea is characterized by the vertical furrow, atrophy of the tongue and upper lip, absent or flattened zygoma, orbital rim, and a hypoplastic maxilla and mandible on the affected side. A lateral open bite may be seen due to the maxillary and mandibular hypoplasia. Sensation, function of muscles of facial expression, and mastication are normal.

Answer 24

The correct response is Option D. Tessier No. 3 orofacial clefts are the most common type. When they affect the alveolus, they typically traverse between the lateral incisor and the canine and extend into the floor of the nose and through the nasolacrimal system and orbital floor, involving the medial canthal region. The other options are all incorrect, because they are not typically the route seen in the Tessier No. 3 orofacial cleft.

Answer 25

The correct response is Option C. This child most likely has branchio-oto-renal (BOR) syndrome, an autosomal dominant syndrome. Two genetic mutations (EYA1 and SIX1) have been identified. The clinical findings include auricular malformations, preauricular skin pits, hearing loss, branchial fistulae, external auditory canal stenosis, and renal anomalies. Renal ultrasound should be performed to rule out renal anomalies. Family history of hearing loss should also raise suspicion. Ear anomalies can also be associated with the oculo-auriculo-vertebral spectrum (OAV), within which hemifacial microsomia falls. OAV spectrum may have associated mandibular, facial nerve, and ocular findings (e.g., epibulbar dermoid, coloboma). Other possible associations include congenital heart defects, such as ventricular septal defect or tetralogy of Fallot. This child does not have other craniofacial findings of hemifacial microsomia, thus cardiac echocardiography is not indicated. Internal cerebral arterial anomalies may be associated with PHACE syndrome (P, posterior fossa; H, hemangioma; A, arterial anomalies; C, cardiac defects; E, eye anomalies). Investigation of cerebral circulation by MRI of the brain would be prompted by a facial hemangioma, which is absent in this child. While resection of the preauricular pits may be offered, it does not aid in ruling out other findings and there is no urgency to perform surgical resections in this child at 3 months of age. Repeating a hearing test will not confirm or rule out OAV or BOR syndrome.

Answer 26

The correct response is Option D. Cleft lip and/or palate is found in up to 20% of patients with CHARGE (coloboma of the eye, heart defects, atresia of the nasal choanae, retardation of growth and/or development, genital and/or urinary abnormalities, and ear abnormalities and deafness) syndrome. It is the second most common syndrome associated with cleft lip and palate, following van der Woude syndrome. CHARGE syndrome is believed to be caused by a microdeletion or mutation in the CHD7 (chromodomain helicase DNA-binding protein 7) gene. Over the years, there have been other conditions found to be associated with this syndrome, including limb anomalies, renal anomalies, omphalocele, cranial nerve anomalies, and tracheoesophageal fistula. Syndactyly is not typically associated with CHARGE syndrome. Intrahepatic hemangiomas are not typically associated with CHARGE syndrome. Craniosynostosis is not typically associated with CHARGE syndrome. Lip pits are commonly found in patients with van der Woude syndrome.

Answer 27

The correct response is Option D. Nasal air emission, along with hypernasality and facial grimacing, are all findings that are commonly observed in patients with an incompetent velopharyngeal port or velopharyngeal dysfunction (VPD). Consonant omissions and glottal stops are two common pathologic compensatory speech patterns that such patients exhibit but are not directly caused by VPD. Instead, they are maladaptive compensatory speech patterns often present in patients with VPD. Although some patients with VPD can have hyponasality or sibilant lateralization, these are unrelated to VPD or an attempt to compensate for VPD.

Answer 28

The correct response is Option E. Only Saethre-Chotzen syndrome is not associated with a fibroblast growth factor receptor (FGFR) mutation, but it is instead associated with a mutation of the TWIST gene. It is characterized by brachycephaly with maxillary hypoplasia, a prominent ear crus, and syndactyly. Pfeiffer syndrome (characterized by brachycephaly, mild syndactyly, and broad toes and thumbs) is associated with mutations of both FGFR1 and FGFR2. Apert syndrome (characterized by brachycephaly, syndactyly, and cognitive delay) is autosomal dominant and associated with mutations of FGFR2. Crouzon syndrome is also autosomal dominant and characterized by shallow orbits, craniosynostosis, and maxillary hypoplasia. Antley-Bixler syndrome has four phenotypes, some of which are associated with FGFR mutations and characterized by craniosynostosis, choanal atresia, and radiohumeral synostosis.

Answer 29

The correct response is Option B. This child demonstrates the classic presentation of deformation plagiocephaly with his posterior occiput flattening and compensatory ipsilateral forehead bossing with anterior shifting of his ear on the same side. There are many reasons for deformational plagiocephaly, especially with the current practice of "back to sleep." Treatment of this focuses on removing the pressure on the affected side. His head tilt and decreased motion are consistent with torticollis. Initial treatment is stretching and occupational therapy to restore usage and balance of his neck muscles. Although helmet therapy can help alleviate pressure on this side, it is not addressing the issue. Further studies have demonstrated that deformational plagiocephaly can be treated with positional changes and behavior modification up until 7 to 8 months of age without difference in head asymmetry compared with those children who began helmet therapy at a younger age. There is no difference in children who fail positional changes compared with those who initiate helmet therapy immediately. At this child's age of 3 months and with obvious torticollis, the most appropriate initial therapy should be focused on resolving his torticollis and giving him a trial of non-helmet therapy.

Answer 30

The correct response is Option C. Tracheostomy and assisted ventilation is the most appropriate management. The patient described demonstrates a significant number of central and mixed apneas, indicating that the initiation of breathing by central drive is diminished and that tracheostomy with assisted ventilation set at a base ventilation rate, such as synchronized intermittent mandatory ventilation (SIMV), would be optimal to ensure adequate minute ventilation. Continuous positive airway pressure (CPAP) until 6 to 8 years of age and then a facial advancement is incorrect. CPAP will assist with obstructive apnea, but will not treat central apnea because no baseline ventilation rate is set using CPAP mode. Hypertelorism surgery within the next year is incorrect because hypertelorism surgery will not treat sleep apnea without facial advancement. Only the wide orbit position would be treated with an orbital box osteotomy or facial bipartition without advancement. Facial advancement surgery within the next year is incorrect because advancement will correct the obstructive apnea and a portion of the mixed apneas, but will not address the central sleep apnea. Observation with tracheotomy and assisted ventilation will be more prudent until the central apnea rate improves, usually after time with maturation. The patient described will still have persistent central apnea and is at higher risk for relapse of the face due to the age of under 6 years.

Answer 31

The correct response is Option A. Descending palatine artery is the correct response since it is at greatest risk after pterygoid osteotomy and down fracture. It is easily visible after down fracture and mobilization of the Le Fort I segment. It is typically injured during osteotomy prior to its division into the greater and lesser palatine arteries. External carotid artery is incorrect because it is within the neck. Its branches ascend in the face and end in the sphenopalatine artery as it enters the pterygoid foramen. Internal maxillary artery is incorrect because it is the larger artery prior to division into multiple smaller branches including the middle meningeal, sphenopalatine, and descending palatine arteries. Greater palatine artery is incorrect because the greater and lesser palatine arteries are below the level of the pterygoid osteotomy. The descending palatine is more proximal and is at greater risk for injury.

Answer 32

The correct response is Option B. This patient has hemifacial microsomia (also referred to as craniofacial microsomia, Goldenhar syndrome, or oculoauriculovertebral spectrum), the second most common congenital facial malformation after cleft lip/palate. It is estimated to occur in 1:5600 to 1:20,000 live births. Unilateral (or less commonly, bilateral) facial hypoplasia is the primary manifestation, and it can involve ocular structures (orbital size, position, globe development, coloboma, epibulbar dermoids), mandibular structures, auricular structures (preauricular tags and sinuses, microtia or anotia, hearing loss), cranial nerve palsies (cranial facial nerve [VII] is most common); and soft-tissue underdevelopment (including facial clefts). In addition, patients can have cardiac, musculoskeletal, central nervous system, and renal manifestations. The etiology of hemifacial microsomia (HFM) appears to be heterogeneous. Early investigators using animal models of the condition believed that this was the result of an isolated vascular event in the stapedial artery. While this mechanism cannot be completely dismissed and may have a role in some cases, the prevalence of extracranial findings strongly suggests a more sublime pathogenesis: faulty neural crest cell (NCC) migration. Both genetic and environmental factors have been demonstrated to alter or impair NCC activity. Recent studies have implicated genetic factors in the development of this disorder. Nevertheless, the majority of patients with HFM have no family history and less than 2% of cases arise from autosomal dominant inheritance. Certain vasoactive and nonsteroidal anti-inflammatory drug (NSAID) medications can increase the risk of HFM; maternal ingestion of omega oils has not been associated. Maternal smoking can increase the risk of having a child with HFM, but the association is weak and this is not causative in the vast majority of patients. Uterine deformation can lead to facial asymmetry; however, this typically improves with growth and does not lead to the ear and jaw anomalies in the patient described.

Answer 33

The correct response is Option A. This is a rare overgrowth disorder involving genetic defect of chromosome 11, commonly characterized by the presence of macrosomia, omphalocele, and macroglossia. These symptoms typically present after 22 weeks' gestation. Additionally, infants with Beckwith-Wiedemann syndrome often display auricular abnormalities, including characteristic ear folds. While a common symptom of diabetic fetopathy is macrosomia, a diagnosis of diabetic fetopathy would be incorrect. Common symptoms of diabetic fetopathy include congenital anomalies of the internal organs, such as nephromegaly or hepatomegaly; no such symptoms are detected in this fetus. The absence of cleft lip and/or cleft palate nephromegaly also precludes the diagnosis of van der Woude syndrome. Additionally, the genetic abnormality responsible for van der Woude syndrome involves chromosome 1, not chromosome 11. Likewise, trisomy 21 (Down syndrome) is not the correct diagnosis, as the chromosomal abnormality responsible for this disease involves chromosome 21, not chromosome 11. Finally, Binder syndrome is a congenital facial malformation most commonly characterized by a flat nose and retrusion of the midface, neither of which are observed in this fetus. Therefore, Beckwith-Wiedemann syndrome is the correct answer.

Answer 34

The correct response is Option A. Facial contour deformities can result from a variety of causes, can be unilateral or bilateral, and may range in severity. The most common cause is Romberg disease, progressive hemifacial atrophy. The cause is unknown but may be a localized form of scleroderma. Systemic lupus erythematosus and scleroderma are the most common connective tissue disorders resulting in soft-tissue atrophy with facial involvement. Systemic lupus erythematosus is an inflammatory connective tissue disorder of unknown cause that predominantly affects women (90%). The clinical course can be variable and involve almost all organ systems. Cutaneous manifestations include soft-tissue atrophy, telangiectasia, and extremity ulcerations. Scleroderma refers to a spectrum of disorders characterized by diffuse fibrosis of the skin, blood vessels, synovia, and vital organs, such as the kidneys. Women are affected four times more frequently than men and the skin is involved in 95% of cases. The pathogenesis is unclear but may include vascular abnormalities (vasculitis), excess collagen deposition, and excess proteoglycan production in the involved tissues. Surgical options for correction of hemifacial atrophy include alloplastic implants, free dermis/fat grafts, fat injections, and fasciocutaneous free tissue flaps. For mild defects, a custom alloplastic implant composed of silicone or porous polyethylene may be acceptable, but risks such as skin breakdown with implant exposure, scar contracture, and poor long-term patient satisfaction make an alloplastic option less desirable. In the patient described, the large nature of the defect and thin nature of her skin make an alloplastic option a poor choice. Fat grafting using the techniques described by Coleman is a viable option for smaller defects. The large defect and need for multiple cycles of fat grafting make this a less desirable option in this patient. Various free flaps including omentum, parascapular, groin, and superficial inferior epigastric artery flaps have been described for correction of hemifacial atrophy. In this case, the anterolateral thigh flap is the most appropriate choice because it allows for harvest of a large amount of tissue, including skin, fat, fascia, and muscle. A gracilis free flap is a great option for facial reanimation, but it would not have enough size and bulk to correct this patient’s deformity. Similarly, a pectoralis major flap would not be acceptable due to lack of bulk and inability to position the flap without tethering because of the pedicle. Additionally, it would be difficult to transpose the muscle high enough for full correction and an unaesthetic bulge would be notable in the neck.

Answer 35

The correct response is Option E. Cerebral salt wasting (CSW) is a condition that combines renal sodium and fluid loss after intracranial injury with an overall negative sodium balance and volume contraction. It responds to fluid and salt replacement. It contrasts with the syndrome of inappropriate antidiuretic hormone (SIADH), which is part of the differential diagnosis in hyponatremia as follows:

Answer 36

The correct response is Option C. This is a growing child with a large calvarial defect in a problematic location. Therefore, the defect needs to be addressed sooner rather than later, due to the potential risk for trauma and the child’s desire to be active. The gold standard for reconstruction of defects of this size and location is split calvarial bone grafting. Rib grafting would work, but would necessitate another donor site and contouring issues. A custom implant or methylmethacrylate would fix the problem in the short term, but would not grow with the child, necessitating additional surgery in the future.

Answer 37

The correct response is Option C. Craniofacial clefts are highly variable and can range from mild forme fruste to severe with involvement of all the layers of the soft tissue and skeletal structures. Tessier described a classification system still in use today based on the bony and soft-tissue landmarks involved in the clefts. Corrective surgery is required in stages, with the timing based on the level of functional problems, including ocular exposure, and airway problems early on. The clefts can be broadly grouped into midline and paramedian clefts (numbers 0 to 14, 1 to 13, 2 to 12), oro-nasal-ocular clefts (numbers 3 to 11, 4 to 10, 5 to 9), and lateral clefts (numbers 6, 7, and 8). In this system, the numbers 0 to 6 refer to clefts below the orbital and numbers 8 to 14 are above the orbit, with 7 being truly lateral.

Answer 38

The correct response is Option B. The patient has Van der Woude syndrome, an autosomal dominant condition affecting 1:35,000 to 1:100,000 persons. The pathognomonic features include lower lip pits, as seen in the photograph, and clefting of the palate, lip, or both. This syndrome is the most common single-gene cause of cleft lip and palate. IRF6 codes for a transcription factor that is involved in the early development. The mutated copy of the gene decreases the amount of active protein and results in the defects associated with this syndrome and popliteal pterygium syndrome. The remaining genes and their products have been implicated in craniofacial morphogenesis and etiopathogenesis of cleft lip/palate. Nevertheless, none are associated with lip pits or are an autosomal dominant cause of facial clefting.

Answer 39

The correct response is Option B. This CT scan shows craniosynostosis of multiple sutures including the coronal, lambdoid, and a portion of the sagittal suture, which is characteristic of a Kleeblattschädel deformity. Brachycephaly is characterized by bicoronal craniosynostosis alone and is most commonly seen in syndromic craniosynostosis. Scaphocephaly is isolated involvement of the sagittal suture and is the most common type of craniosynostosis. Metopic synostosis is the cause of trigoncephaly and this suture is open in the CT scan. Lambdoid, which produces posterior plagiocephaly synostosis, is seen in the CT scan but not in isolation and is the least common of the single suture synostoses.

Answer 40

The correct response is Option E. Patients with rarer facial clefts are classified according to the system proposed by Tessier in 1973. Each cleft is classified by the soft-tissue findings and the bony defects as they relate to the orbit. Nos. 0 through 7 occur in the lower half of the face as delineated by the orbital commissure, and Nos. 9 through 14 occur in the upper half of the face. The most common facial cleft is the No. 7 cleft centered in the region of the zygomaticotemporal suture. It includes variable expression of macrostomia and hypoplasia of the zygoma.

Answer 41

The correct response is Option C. It is most likely that this patient has progressive, but now stable, hemifacial atrophy, or Parry-Romberg syndrome. The course is characterized by progressive unilateral atrophy of the soft tissues of the face. The underlying skeleton may be affected in severe forms of the disease. Surgery is indicated when the changes stabilize. The recommended treatment is free tissue transfer, preferably a microvascular parascapular flap, followed by a secondary autologous fat grafting for refinement. Augmentation of the maxilla is not indicated in the absence of bony atrophy. Staged cross-facial nerve grafting followed by microvascular gracilis transfer is indicated for absence of facial nerve function. A pedicled temporalis muscle flap would likely not provide sufficient bulk where needed and potentially leave a hollow at the donor site. Alloplastic augmentation of the soft tissues with hyaluronic acid is only approved for volume loss due to human immunodeficiency virus infection.

Answer 42

The correct response is Option B. Although each of the disorders or syndromes listed is associated with a periocular soft-tissue or orbital abnormality, only neurofibromatosis is associated with agenesis of the sphenoid wing. While plastic surgeons primarily manage the soft-tissue manifestations of neurofibromatosis, the disorder is associated with skeletal abnormalities including sphenoid wing aplasia, macrocephaly, scoliosis, and tibial bowing. Sphenoid wing aplasia causes brain herniation through the middle cranial fossa into the orbit with pulsatile exophthalmos, vertical dystopia, and an enlarged orbital volume. Surgical correction involves bone grafts or titanium mesh to reconstruct the sphenoid wing with reduction of the temporal lobe into the middle cranial fossa. Unilateral coronal synostosis is characterized by foreshortening of the orbital roof on the affected side. Synostosis of the coronal suture causes superior displacement of the lesser wing of the sphenoid with the radiographic appearance of the harlequin deformity. Patients may have strabismus occurring secondary to relative paresis of the superior oblique muscle. The child may tilt the head to compensate. Treacher Collins syndrome is associated with lower eyelid colobomas, zygomatic hypoplasia with hypoplastic or absent zygomas and inferolateral orbital rim clefting, absence of eyelashes, and bilateral mandibular hypoplasia. Hemifacial microstomia is a variant of craniofacial microsomia, distinguished by the presence of concomitant ocular abnormalities, including epibulbar dermoids. The Tessier No. 5 cleft begins behind the canine and extends through the maxillary sinus to the orbital floor. Colobomas of the lateral lower eyelids and clefting of the upper lip medial to the oral commissure are associated.

Answer 43

The correct response is Option B. The patient in the photograph has metopic craniosynostosis. The primary clinical features of trigonocephaly are a palpable metopic ridge, bossing with thickened bone at the glabella, bifrontal narrowing, recession of the superior orbital rims, temporal narrowing, and hypotelorism. Trigonocephaly is also known as a keel-shaped deformity. The metopic suture is the first cranial suture to fuse and this usually occurs at approximately 8 months of age. The other cranial sutures generally fuse in adulthood. Treatment depends on the age of presentation and extent of deformity. Options for management are varied and range from no intervention for minimal deformity, burring of the metopic ridge only, endoscopic synostectomy with helmet therapy, and bilateral fronto-orbital advancement.

Answer 44

The correct response is Option E. Progressive hemifacial atrophy, also known as Parry-Romberg syndrome, is a rare disorder characterized by a self-limiting, slow, progressive, unilateral facial atrophy affecting the skin, subcutaneous tissue, muscle, and osteocartilaginous adjacent structures. It involves one or more trigeminal dermatomes with symptoms usually appearing in the first or second decade of life. The progression of atrophy usually lasts a variable 2 to 10 years. The etiology and pathogenesis of this disease are uncertain. The severity of soft-tissue involvement appears to be independent of age of onset, facial distribution, or extent of the disease process; however, age of onset has been shown to correlate with the degree of bony hypoplasia. Onset of the disease at an earlier age during skeletal immaturity has a higher likelihood of skeletal involvement. Clinical features of hemifacial atrophy include enophthalmos, cheek depression, deviation of the mouth and nose towards the affected side, ipsilateral show of teeth, and tongue atrophy. In addition, extracutaneous involvement has been described, including hemiatrophy of the contralateral or ipsilateral arm, trunk or leg, as well as dental, ocular, and neurologic abnormalities such as enophthalmos, headaches, facial pain, and seizures. An age correlation with these features has not been demonstrated. Facial paresthesia has been described but motor function remains intact.

Answer 45

The correct response is Option C. The clinical findings are suggestive of right unilateral lambdoidal synostosis (synostotic plagiocephaly). If craniosynostosis is suspected, the child may need surgical correction of the defect. Therefore, it is incorrect to pursue reassurance and conservative therapy without confirming the presence of a prematurely fused suture. Lambdoidal synostosis is the least common premature fusion of a suture (2 to 3% of all synostosis cases). The physical findings have some similarities and distinct differences from the frequently seen positional deformational plagiocephaly. Positional plagiocephaly can have ipsilateral forehead protuberance and anterior displacement of the ipsilateral ear. Lambdoid synostosis, on the other hand, is associated with ipsilateral mastoid bossing and protuberance of the contralateral forehead. The position of the ear, once another landmark to help distinguish between positional and synostotic plagiocephaly, with lambdoid synostosis associated with posterior displacement of the ipsilateral ear, has been questioned in recent years. A literature review showed that the ipsilateral ear has been reported to be nondisplaced, anteriorly displaced, or posteriorly displaced. Therefore, the significance of the position of the ear is unclear at this time. There is no need for plain film series before head CT scan. Imaging studies are performed to confirm synostosis before surgical intervention.

Answer 46

The correct response is Option C. Oculoauricular dysplasia (Goldenhar syndrome) may have many different possible manifestations, but is typically characterized by ear anomalies, epibulbar dermoids, facial and mandibular hypoplasia, and vertebral anomalies. Cleft palate, although it may be encountered in patients with Goldenhar syndrome, is not generally regarded as a classic finding and is less common than microtia in affected patients. Lower lip pits are a finding suggestive of van der Woude syndrome, the most common orofacial clefting syndrome, rather than Goldenhar syndrome. Syndactyly is not generally regarded as a component of Goldenhar syndrome. Telecanthus is not a classic finding in patients with Goldenhar syndrome.

Answer 47

The correct response is Option C. The mutation for van der Woude syndrome has been mapped to the interferon regulatory factor 6 (IRF6) gene in chromosome 1. The inheritance is autosomal dominant with variable penetrance. Other associated findings include hypodontia (as high as 86%), high arched palate, lip pits, syngnathia, and ankyloglossia. Agenesis of the corpus callosum and preauricular skin tags are not associated with van der Woude syndrome. Glossoptosis is associated with Pierre Robin sequence. Medialized internal carotids can be seen in patients with velocardiofacial syndrome.

Answer 48

The correct response is Option D. Neural crest cells derive from the ectoderm layer of the developing embryo, specifically the neuroectoderm of the forebrain, midbrain, and hindbrain. The neural crest contributes significantly to the craniofacial region, and also to the conotruncal endocardial cushions that are responsible for dividing the outflow tract of the heart into separate pulmonary and aortic components. Therefore, defects in neural crest cell development will frequently result in malformations of both the craniofacial area and cardiac septum. Examples of this association are: Treacher Collins syndrome, Pierre Robin sequence, 22q11.2 deletion syndrome, and oculoauriculovertebral syndrome. The cardiogenic mesoderm derives from splanchnic (visceral) mesoderm, and contributes the precursor cells that differentiate into the endocardium and myocardium. It does not contribute to the head and neck. Ectodermal placodes are separate from the neuroectoderm and consist of areas of thickened ectoderm that guide neural crest cells in forming the cranial sensory ganglia. Lateral plate mesoderm is a derivative of the mesoderm layer of the embryo and contributes to the laryngeal cartilages and associated connective tissue of the head and neck. Paraxial mesoderm produces somites that form the skull, meninges, voluntary craniofacial musculature, and dermis and connective tissue of the dorsal aspect of the head.

Answer 49

The correct response is Option E. Syndromic ear anomalies are associated with an increased risk of renal anomalies in syndromes such as brachio-oto-renal syndrome, Townes-Brocks syndrome, etc. Cardiac abnormalities are not associated with isolated microtia, but they are associated with extended spectrum hemifacial microsomia (oculoauriculovertebral dysplasia). Magnetic resonance angiography of the brain to rule out internal cerebral artery anomalies is indicated in children suspected of PHACE syndrome (P, posterior fossa; H, hemangioma; A, arterial anomalies; C, cardiac defects; E, eye anomalies) when clinical symptoms include a large segmental hemangioma. Tethered cord is not associated with ear anomalies. It is a concern with myelomeningoceles and spina bifida, and with Chiari malformations. Limb-length discrepancies are not associated with microtia.

Answer 50

The correct response is Option C. Craniosynostosis refers to the premature fusion of one or more cranial sutures that make up the cranial vault and cranial base. Once this fusion occurs prematurely, the growth of the skull is altered and the development of the head takes on a characteristic morphologic shape that is determined by the fusing suture. Trigonocephaly is classically characterized by a typically wedge-shaped skull when viewed from above; it originates from a premature stenosis of the metopic suture followed by a bilateral growth restriction of the forehead. This results in bitemporal narrowing and hypotelorism. Plagiocephaly or unilateral coronal synostosis is characterized by the flattening of the forehead and frontoparietal region ipsilateral to the fused suture. As a result of this fusion, a compensatory bulge occurs in the opposite frontoparietal skull. The temporal fossa on the side of the fusion is convex and the ear becomes anteriorly displaced. The petrous portion of the temporal bone that contains the glenoid fossa is also displaced forward and the articulation with the mandible is displaced forward as a result. The nasal radix is also deviated toward the fused side and the tip of the nose is turned to the opposite side. Ridging of the sagittal suture forms a narrow biparietal skull. Scaphocephaly shows compensatory growth in the frontal region or frontal bossing and/or occipital coning. There is associated enlargement of the head circumference. Sagittal synostosis remains the most frequent of the nonsyndromic craniosynostosis. Unilateral lambdoid synostosis has ridging of the lambdoid suture, ipsilateral parieto-occipital flattening, prominence of the mastoid air cells, posterior displacement of the ear on the side of the occipital flattening, and scoliosis of the base of the skull, resulting in curvature of the cervical spine.

Answer 51

The correct response is Option C. The patient described has McCune-Albright syndrome. It is a triad of polyostotic fibrous dysplasia, precocious puberty, and café-au-lait spots. Surgical intervention is not indicated in asymptomatic lesions. The general indications for surgery are aesthetic imbalance, facial disfigurement, distortion of functional occlusion, orbital dystopia, ocular proptosis, impingement on neural foramina, impingement on the optic nerve, and intractable pain. It is debatable whether contour reduction or resection and replacement of the afflicted bone is preferable. Recent literature seems to favor the latter. Biopsy is generally not needed for diagnosis, as imaging studies are generally specific for fibrous dysplasia. Equivocal imaging may warrant biopsy to confirm the diagnosis. In general, medical treatment has had little impact on fibrous dysplasia. Early attempts at treatment included chemotherapy, glucocorticoids, calcitonin, and radiation therapy, which were all unsuccessful. Radiation therapy should never be used, as it clearly promotes sarcomatous degeneration of fibrous dysplasia. Pamidronate, a bone resorption-inhibiting bisphosphonate, has been shown in multiple small studies to decrease pain associated with fibrous dysplasia and decrease bone turnover. Nonsteroidal anti-inflammatory drugs can be effective, as can narcotic analgesics in pain control. Referral to a pain specialist may be necessary.

Answer 52

The correct response is Option C. Patients with 22q11.2 deletion may have cardiac abnormalities, renal issues, immune deficiencies, speech and feeding delays, mental health issues, developmental delay, cleft palate, and calcium regulation disturbances. Postoperatively, patients with 22q11.2 deletion may be at higher risk than non-deletion patients for hypocalcemia and should have postoperative calcium concentration checked in the first 6 hours postoperatively to identify and correct any abnormalities. Failure to identify postoperative hypocalcemia may lead to increased morbidity and mortality. Fluorescent in situ hybridization is a genetic test that is unnecessary in this patient who already has the diagnosis of 22q11.2 deletion. The sodium, potassium, and phosphate values are not routinely obtained early postoperatively.

Answer 53

The correct response is Option D. The patient described has marked loss of facial soft-tissue volume related to the initial tumor resection and the adverse effects of postoperative radiation treatment. The best method for restoring soft-tissue volume is a scapular free flap. This method of reconstruction has advantages over the others listed. The free scapular flap does not rely on the damaged and scarred soft-tissue envelope for vascular support and, thus, it will retain its volume. In contrast, fat grafting, dermal fat graft, and layered acellular dermis all undergo some resorption, especially in this poorly vascularized recipient site. The scapular flap is of sufficient thickness to correct even a volume defect of this size. Although the other soft-tissue reconstructive options can improve contour, the volume required in this patient cannot be achieved with these modalities alone. The use of an alloplastic reconstruction alone can improve mid-facial volume, but will not address the lower third deficit. In addition, there is a moderate risk of extrusion and/or infection with this technique alone.

Answer 54

The correct response is Option E. The patient in the photograph has the classic features of sagittal suture synostosis. The primary clinical features of scaphocephaly are lengthening of the cranial vault in the anterior-posterior dimension, an anteriorly displaced cranial vertex, bullet-shaped occiput, biparietal and/or temporal narrowing and frontal bossing. All of these features are present in this patient. Because of the patient’s late clinical presentation for treatment, the most appropriate surgical procedure would be a total cranial vault reconstruction of which there are many variations and techniques. Because of the patient’s age, he is not a candidate for either endoscopic-assisted wide strip craniotomy or spring-mediated cranioplasty. Ideal candidates for either procedure are ideally under age 6 months and 9 months, respectively, for an adequate clinical result. The results of both techniques have been shown to be comparable to traditional open remodeling procedures and are generally less invasive surgical procedures. Although the monobloc distraction may allow the opportunity to remodel the forehead, there is no clinical indication for midface distraction in the patient described. A monobloc distraction alone will not correct the other abnormal features of scaphocephaly. It is not an indicated procedure for the correction of isolated sagittal suture synostosis. Bilateral fronto-orbital advancement may allow the opportunity to remodel the forehead, but it will not address the other cranial vault abnormalities. There is no indication for remodeling the supraorbital bar in this case.

Answer 55

The correct response is Option B. The newborn described has CHARGE (coloboma of the eye, heart defects, atresia of the nasal choanae, retardation of growth and/or development, genital and/or urinary abnormalities, and ear abnormalities and deafness) syndrome. Bicoronal craniosynostosis is associated with Crouzon, Apert, and Pfeiffer syndromes, which do not include all of the other defects. Radial hypoplasia is associated with VACTERL (vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb anomalies) syndrome. Syndactyly can be seen in many conditions including Down syndrome, Apert syndrome, and Carpenter syndrome. Webbing of the neck can be commonly seen in Noonan syndrome, Klippel-Feil syndrome, and Turner syndrome.

Answer 56

The correct response is Option E. The patient described has bilateral macrostomia, also known as Tessier No. 7 cleft, the most common facial cleft in the Tessier classification system. This resulted from the failure of fusion between the maxillary and mandibular processes. Repair of the macrostomia can be undertaken in the first months of life. Duplicated maxilla has been reported in as high as 39% of patients with macrostomia. It is defined as having multiple supernumerary teeth and marked overlap of the maxillary arches. Other craniofacial findings such as mild mandibular/condylar anomalies and alveolar clefting have also been reported. The anatomy can be defined by three-dimensional CT scan and panoramic x-ray study (Panorex). Therefore, it is important to continue to observe these children with dental and orthodontic workups as they grow, even after the repair of the macrostomia. Glossoptosis and cleft palate are associated with Pierre Robin sequence. Renal anomalies may be associated with congenital anomalies of the ears, such as in branchiootorenal syndrome. Posterior fossa abnormalities and intracranial arterial anomalies are associated with PHACE syndrome. (P, posterior fossa; H, hemangioma; A, arterial anomalies; C, cardiac defects; E, eye anomalies). Coloboma of the eyelids and lacrimal gland anomalies are associated with Tessier No. 3 clefts (oro-nasal-ocular clefts). Macrostomia is most commonly associated with hemifacial microsomia.

Answer 57

The correct response is Option D. Exorbitism describes bulging of the globe due to decreased volume of the bony orbit, whereas exophthalmos describes protrusion of the globe due to increased orbital soft-tissue contents. There is decreased orbital bony volume due to craniosynostosis in Apert syndrome. Exotropia and esotropia describe strabismus, in which the eyes are deviated laterally (outward) or medially (inward), respectively. Enophthalmos is a condition where the globe is recessed in the orbit. This can be due to increased bony volume or malposition of the bony orbit after trauma and/or under-correction or repositioning of the bony skeleton.

Answer 58

The correct response is Option B. Distraction osteogenesis allows anterior movements of the midface that cannot be achieved with conventional Le Fort III and bone grafting. The advancement obtained with single-stage midfacial advancement is limited by soft-tissue tension to 10 to 12 mm, and bone grafting is required to buttress the advanced segments. These procedures have long operative times and major blood loss, and some reports suggest long-term relapse presumably due to bone graft resorption. In contrast, the gradual soft-tissue creep achieved with distraction allows osseous advancement in excess of 30 mm. In addition, distraction osteogenesis obviates the need for bone grafting and relapse is minimal. The effect of successful midfacial advancement is a decrease in SNB, an increase in ANB, decrease in negative overjet, and an increase in upper airway volume. The latter change often leads to an improvement in obstructive sleep apnea. Exorbitism is reduced by the increase in orbital volume.

Answer 59

The correct response is Option E. Bilateral lower eyelid colobomas are commonly found in patients with Treacher Collins syndrome (TCS). TCS is also known as mandibulofacial dysostosis, first and second branchial arch syndrome, and Franceschetti-Zwahlen-Klein syndrome. Edward Treacher Collins described the syndrome in 1900. It is autosomal dominant with variable penetrance and has an incidence of 1 in 7,000 live births. It has significant dysmorphology, which includes lower eyelid colobomas, clefted and hypoplastic zygomas, clefted lateral orbit, hypoplastic mandible, lateral canthal vertical dystopia, antimongolian palpebral fissure, ear deformities, long anterior sideburns, anterior open bite, cleft palate, and macrostomia. Crouzon, Apert, and Pfeiffer syndromes involve craniosynostosis, typically bicoronal. These patients also have underdevelopment of the mid face also. They do not have any eyelid abnormalities. Apert patients also may have a cleft palate and syndactyly of the hands and feet. Goldenhar syndrome involves epibulbar dermoids of one or both eyes and underdevelopment of one or both sides of the face. It is also known as hemifacial and bifacial microsomia. The soft tissue as well as the bone is hypoplastic.

Answer 60

The correct response is Option E. Treatment of airway compromise associated with Robin sequence depends on the severity and etiology of the airway obstruction. Obstruction is often caused by glossoptosis (tongue retropositioning into the oral pharynx), but this may not be the only cause of respiratory distress in these infants. Additional anatomic and physiologic causes of poor respiration (e.g., central apnea, laryngeal anomalies) have been documented in Robin sequence patients and can limit treatment options. Mandibular distraction and tongue-lip adhesion are both effective addressing the glossoptosis and upper airway obstruction, but will have no effect on the subglottic laryngomalacia and webbing. Similarly, prone positioning and nasal airway do not address the lower airway causes of airway obstruction in this child. Only tracheostomy will bypass the laryngeal anomalies and ensure adequate airway patency.

Answer 61

The correct response is Option B. The patient described has Apert syndrome. This autosomal dominant syndrome is characterized by bicoronal craniosynostosis leading to turribrachycephaly, mid face hypoplasia, and complex hand and foot syndactyly. Patients with Crouzon syndrome, an autosomal dominant disorder, typically have craniosynostosis involving the coronal, sagittal, and lambdoid sutures, as well as turribrachycephaly. Other findings include mid face hypoplasia, exorbitism, and proptosis. The extremities are normal. Defects in the Fibroblast Growth Factor Receptor-2 (FGFR2) are found. 22q deletion syndrome, which has several presentations, including DiGeorge syndrome, velocardiofacial syndrome, and Shprintzen syndrome, is caused by the deletion of a small piece of chromosome 22. The deletion occurs near the middle of the chromosome at a location designated q11.2; i.e., on the long arm of one of the pairs of chromosome 22. Characteristic signs include congenital heart disease, cleft palate, learning disabilities, mild elongation of facial features, and mental illness in the teenage years. Mutations in the IRF6 gene cause van der Woude syndrome. Van der Woude syndrome is an autosomal dominant form of cleft lip and palate. Affected individuals usually have lip pits. Mutations in the TCOF1 gene cause Treacher Collins syndrome. The official name of this gene is “Treacher Collins-Franceschetti syndrome 1.” Patients with Treacher Collins syndrome, or mandibular dysostosis, have hypoplasia of the zygoma, maxilla, and mandible, downward slanting of the palpebral fissures, colobomas of the lower eyelids, absence of eyelashes, and auricular defects.

Answer 62

The correct response is Option D. Parry first described the syndrome of progressive facial atrophy in 1825, followed by Romberg in 1846. Parry-Romberg syndrome (also known as progressive hemifacial atrophy) is a rare neurocutaneous syndrome characterized by progressive shrinkage and degeneration of the tissues beneath the skin, usually on only one side of the face (hemifacial atrophy) but occasionally extending to other parts of the body. The syndrome often begins with a circumscribed patch of scleroderma in the frontal region of the scalp which is associated with a loss of hair and the appearance of a depressed linear scar extending down through the mid face on the affected side. This scar is referred to as a “coup de sabre,” and is indistinguishable from the scar observed in frontal linear scleroderma. Symptoms and physical findings usually become apparent during the first or early during the second decade of life. The average age of onset is 9 years, and the majority of individuals experience symptoms before age 20 years. The disease may progress for several years before eventually going into remission. Most patients do not have severe enough disease to warrant immunosuppression. However, for those with more severe and progressive disease, treatments used include methotrexate (for which there is limited evidence in linear scleroderma), corticosteroids, cyclophosphamide, and azathioprine, but benefits are unclear. The timing of surgical intervention is generally agreed to be the best following exhaustion of the disease course and completion of facial growth. When Parry-Romberg syndrome is severe, the skeleton may be affected, and bony restoration may be required. Soft-tissue reconstruction in patients with severe disease may require free tissue transfer. It is much more common to begin reconstruction with autologous fat transfers. Off-the-shelf cutaneous fillers have also been employed. The use of highly active antiretroviral therapy with protease inhibitors can result in a syndrome of peripheral wasting, facial fat atrophy, and central adiposity in as many as 64% of patients who are HIV-positive who are treated with this regimen for 1 year. This is usually a bilateral process, but also responds to similar treatment options. Switching antiretroviral drugs may be effective but is only employed in those patients with complete viral suppression. Injections of poly-L-lactic acid (Sculptra) are now licensed for cosmetic management of facial lipoatrophy.

Answer 63

The correct response is Option C. OThe classification scheme by Tessier is perhaps the most accepted and basic approach to describe these rare craniofacial clefts. As it only provides an anatomical description, others have further developed description schemes. Some have an embryonic emphasis to further characterize these disorders. These severe clefts can be associated with encephalocele, which if not repaired can be life-threatening. Nasal dermoids arise from contact between dura and ectoderm through the foramen cecum. These can be dangerous if there is intracranial extension. Heterotopic glial tissue is equivalent to the term glioma because these are generally not connected to the intracranial space and are treated as benign lesions. The Rathke pouch occurs during development when the stomodeum ectoderm invaginates toward the hypophysis and remnants are usually located in the nasopharynx as a cyst. An encephalocele is similar to a glioma but contains meninges and/or brain (encephalomeningocele) and can communicate with the ventricle (encephalomeningocystocele). Fifteen percent of these are intranasal. Resection of these without knowing about their intracranial communication can be disastrous. Left untreated, these lesions can significantly increase the risk of meningitis and be life-threatening.

Answer 64

The correct response is Option E. Hemifacial microsomia (HFM) is the second most common congenital anomaly, with a reported incidence of approximately one in 5,600 live births. It is thought to be a result of vascular injury to the first and second branchial arches during the 30th to 45th day of pregnancy. The presentation of HFM is highly variable and ranges from mild facial asymmetry and microtia to a severe asymmetry of the orbit and mid and lower faces. Vertebral, cardiac, and renal malformations can also occur with HFM. A number of studies document velopharyngeal insufficiency (VPI) in patients with HFM. This VPI results from a unilateral hypodynamic palate. With this lack of movement, the nasopharyngeal port cannot be closed fully, and the speech is hypernasal. Some patients are able to compensate for the asymmetry of the palatal movement and have normal speech. Approximately 15% of patients with HFM have evidence of VPI based on speech evaluation and nasoendoscopy.

Answer 65

The correct response is Option D. Orbital hypertelorism refers to a condition in which the interorbital distance, measured from dacryon (the junction of the frontal, lacrimal, and maxillary bones) to dacryon is increased. Orbital hypertelorism occurs in the setting of a number of conditions, including frontonasal malformations, craniofrontonasal dysplasia, craniofacial clefts, encephaloceles, and other mostly syndromic disorders. Some authors distinguish orbital hypertelorism from interorbital hypertelorism. In the latter, the distance between the medial orbital walls is increased just as in orbital hypertelorism but the lateral orbital walls are in a normal position. The mean interorbital distance is 28 mm in men and 25 mm in women. Exotropia refers to a form of strabismus where the eyes are deviated outward (laterally), in contrast to esotropia, where the eyes are deviated inward (medially). Either exotropia or esotropia may exist in hypertelorism and data are not provided in the question to make this diagnosis. Pseudohypertelorism, or telecanthus, occurs when the intercanthal distance, defined as the distance between the medial canthal tendon insertions, is increased but the interorbital distance is normal. Telecanthus may give the appearance of hypertelorism, but can be differentiated on plain film x-rays or computed tomography. Exophthalmos refers to protrusion of the globe due to an increase in the size of the orbital contents in the presence of a normal bony orbit. Graves disease is one of the most common causes of exophthalmos. This is in contrast to exorbitism, which is protrusion of the globe due to a decrease in the capacity of the bony orbit, which may be seen in hypertelorism.

Answer 66

The correct response is Option B. The patient described has the characteristic craniofacial findings of Treacher Collins syndrome, notably hypoplasia of the zygomatic bones and mandible, external ear abnormalities, coloboma (notching) of the lower eyelid, absence of the lower eyelid cilia, and preauricular hair displacement. Mutation of the gene TCOF1 is the only gene known to be associated with Treacher Collins syndrome, and it is inherited in an autosomal dominant fashion.

Answer 67

The correct response is Option C. The patient described has a transverse facial cleft, or macrostomia, resulting from incomplete merging of the mandibular and maxillary prominences of the first pharyngeal arch. This orofacial cleft, also known as a Tessier No. 7 cleft, can vary in size from a minor lateral displacement of the oral commissure to a more extensive defect involving the skin and muscle of the lateral mouth and cheek; the zygomatic arch; and, rarely, the temporal region. Macrostomia can occur in isolation but is associated more commonly with hemifacial microsomia, occurring in up to 23% of this population. The anterior and posterior auricular hillocks, derived from the first and second pharyngeal arches, respectively, form on either side of the first pharyngeal groove at 6 weeks’ gestation and coalesce to form the external ear. The hillocks begin as swellings of mesenchyme at the upper aspect of the embryonic neck and ascend to the side of the head during development. The confluence of the second and third arches takes place in the upper neck, not the face. Cleft lip results from failed merging of the maxillary prominence and the medial nasal process. The frontonasal prominence forms the central forehead, the nasal and perinasal structures, the central portion of the upper lip, and the premaxilla. Failed merging with the maxillary prominence can result in a Tessier No. 2, No. 3, or No. 4 facial cleft.

Answer 68

The correct response is Option D. The patient described has Romberg disease, also known as progressive hemifacial atrophy. Hypoplasia is seen in both maxillary and mandibular dental arches. The disorder may be associated with disturbance in normal dental growth, with foreshortening of the dental roots. The disease is of unknown origin, and characteristically it begins in the first or second decade of life as a localized and progressive atrophy of skin and subcutaneous tissue within the dermatome of one of the branches of the trigeminal nerve. The classic earliest sign is the 'coup de sabre,' which affects only about half of the patients. In progressive facial hemiatrophy or Parry-Romberg syndrome, cutaneous inflammation, induration, and adhesion are absent or minimal, and atrophy usually involves only one entire side of the face. The disease is rarely bilateral. Despite the fact that the frontal region is the most commonly affected, the frontal bone is infrequently involved. Vascular malformations are not associated with Romberg disease.

Answer 69

The correct response is Option B. The entity represented in the CT scan shown is fibrous dysplasia, which, in combination with precocious puberty and café-au-lait spots, is known as McCune-Albright syndrome. These patients typically have polyostotic fibrous dysplasia, most commonly affecting the skull, long bones, and ribs. Affected bone may show minor changes that are detectable only on imaging studies such as CT scans or bone scans. Such scans may also show severe change or overgrowth resulting in impingement of the optic nerves, mass effect on the brain, or disfigurement. The precocious puberty in the scenario described is the result of gonadotropin-independent autonomous ovarian or testicular function and is more common in girls than in boys. Klippel-Feil syndrome is characterized by congenital fusion of any two of the seven cervical vertebrae. Traits of this condition include a short neck, low occipital hairline, and restricted mobility of the upper spine. Paget disease of the bone is also known as osteitis deformans and is a chronic disorder resulting in enlarged, deformed bones. It is typically diagnosed in the third or fourth decade of life by a blood test for alkaline phosphatase. The excessive breakdown and formation of bone can result in weakening of the bone. Proteus syndrome causes atypical bone development and skin overgrowth. It is an extremely rare congenital disorder, and it is variable in its symptoms. Renal osteodystrophy is a bone mineralization deficiency resulting from electrolyte and endocrine abnormalities associated with chronic kidney disease.

Answer 70

The correct response is Option D. In the scenario described, flattening of the left side of the forehead, deviation of the nasal root to the left side, and flattening of the left occiput are consistent with left coronal synostosis, and surgery is ultimately the treatment of choice. The scenario does not describe deformational plagiocephaly, which may be treated with a molding helmet, positioning, or observation. In an otherwise healthy baby with these findings, there is no indication for an MRI of the head.

Answer 71

The correct response is Option B. Physiologic or normal closure of the metopic suture occurs first. Recent studies report an earlier closure date than originally thought. The metopic suture may start to close as early as 6 months. The rest of the sutures identified close much later, with the sagittal suture (A) closing at 22 years, the coronal suture (C) closing at 24 years, the lambdoid suture (D) closing around 26 years, and the squamosal suture (E) closing at 35 years.

Answer 72

The correct response is Option D. Patients with sagittal synostosis may undergo an endoscopic correction that entails a synostectomy of the fused suture and additional bone, microfracturing of the parietal bones, and postoperative orthotic use to achieve an ideal calvarial form with normal cephalic index. There is no type of fixation utilized in this surgery. It must be done at a younger age than the open approach. The ideal time frame is between 2 to 4 months of age. Surgeons have tried endoscopic treatment for other types of synostoses with variable and controversial results. The open approach is still most successful in treatment of lambdoidal, coronal, and metopic synostosis. Squamosal synostosis generally does not require surgical intervention.

Answer 73

The correct response is Option A. The Pierre Robin sequence consists of micrognathia or retrognathia, glossoptosis, and airway obstruction (with or without cleft palate). Cleft palate is a frequently associated feature, but not cleft lip. There is little evidence of genetic transmissions. The retrognathia is believed to contribute to the glossoptosis, which in turn produces the airway obstruction. Initial management is conservative. Prone positioning is the mainstay of initial airway management. Upright feedings, the use of nasogastric tubes, and endotracheal intubation may assist with the early management of the child. Before undertaking any operative intervention designed to address the glossoptosis, such as mandibular distraction or tongue-lip adhesion, a nasoendoscopy is recommended. This is performed to rule out other anatomical sites or causes of airway obstruction. For airway obstruction arising only from glossoptosis, a tongue-lip adhesion is a reasonable first treatment option. This procedure is most effective in infants with good prospects for mandibular growth early in infancy (ie, Stickler syndrome, velocardiofacial syndrome, nonsyndromic patients). In some syndromes with poor mandibular growth potential, such as Treacher Collins syndrome or facial microsomia, or when the degree of mandibular hypoplasia or retrusion is particularly severe, mandibular distraction may provide a more effective management option.

Answer 74

The correct response is Option B. The patient described appears to have velocardiofacial syndrome, an autosomal dominant condition caused by a deletion of the long arm of chromosome 22. Manifestations of velocardiofacial syndrome include cleft palate, velopharyngeal insufficiency, and cardiac abnormalities. Abnormal facial features associated with this syndrome include a broad, prominent nose, malar flattening, epicanthal folds, retrognathia, and vertical maxillary excess. MRA is the diagnostic study of choice for detecting abnormalities of the carotid vasculature, notably medialization, which may complicate palatal or pharyngeal surgery. While carotid angiography would yield similar information, it is too invasive. Neither PET scan of the brain nor renal ultrasonography addresses this issue.

Answer 75

The correct response is Option C. The kleeblattschädel skull deformity occurs secondary to multiple suture synostoses. This results in a significant increase in intracranial pressure that causes the skull deformity shown in the CT scan. The increase in intracranial pressure produces a ?moth-eaten? appearance and is the reason for early surgical intervention. This skull deformity is not typically associated with hydrocephalus. Visual compromise sometimes occurs late in life secondary to increased intracranial pressure. Orbital exposure can be a reason for early surgical intervention in some types of syndromic craniosynostosis, such as Crouzon syndrome and Apert syndrome, but is not seen in the scenario described. Airway compromise would be an indication for urgent surgical intervention, but it is not typical for kleeblattschädel skull deformity.

Answer 76

The correct response is Option C. The Tessier No. 3 cleft defect symptoms include a defect between the lateral incisors and canine. This cleft typically involves the alar base and medial canthal region. In severe cases, the cleft may enter the orbit medial to the punctum. Tessier No. 4 facial clefts extend from the upper lip, around the alar base, along the nasomaxillary junction, and across the tear duct and medial orbital tissues. Tessier No. 6 facial clefts may disrupt bone and soft tissues along the lower lateral orbit. These defects are frequently associated with colobomas of the lower eyelid. Extending into the frontal bone, Tessier No. 10 clefts involve the superior orbital rim and medial third of the orbit. Proptosis with fronto-orbital encephalocele may be present with significant clefts at this location. No. 7 clefts may produce macrostomia and extend through the lateral zygomatic arch. An image is shown.

Answer 77

The correct response is Option D. Of the choices given, the most appropriate method of reconstruction in the patient described, who has Romberg disease, is a parascapular free flap. Patients with Romberg disease may have deformities composed of skin, subcutaneous tissue, muscle, and bone. Options for reconstruction include synthetic material and implants, biologic fillers, bone grafts, fat grafts, and free tissue transfer. Facial contouring with silicone injection has been unsatisfactory with severe scarring, contracture formation, and skin breakdown. Removal of liquid silicone can be a very challenging task and can make future reconstructions more difficult. Muscle and myocutaneous flaps are not ideal, as they can be too bulky, and the eventual muscle atrophy leads to unpredictable long-term results. Omental flaps for facial recontouring have been described, but they have several drawbacks. These include the need for an intra-abdominal harvest and the difficulty in long-term flap fixation, with eventual descent given the absence of dermal or fascial components to be used in fixation. The parascapular flap provides a versatile source of composite tissue that remains relatively stable as it matures, and it provides tissue components for appropriate fixation.

Answer 78

The correct response is Option E. Long-face deformity (vertical maxillary excess) is characterized by an increase in the lower third of the face. A gummy smile is associated with this deformity. The mid facial appearance is flattened. Although all types of Angle occlusion patterns are possible, type II is most common. Mandibular retrusion is associated with a retrusive chin and Angle class II malocclusion, but the teeth would not be visible in repose. Mandibular excess would not be associated with a retrusive chin but would be associated with Angle class III malocclusion. Maxillary retrusion is associated with maxillary hypoplasia and often a shortening of the lower vertical facial height. Angle class III malocclusion is seen with this deformity, and cephalometric analysis shows a decreased SNA angle but an increased SNB angle. Vertical maxillary deficiency, although often associated with Angle class II malocclusion, results in shortening of the lower third of the face, and the teeth are not seen in repose. SNA and SNB angles are frequently increased in this deformity.

Answer 79

The correct response is Option C. Acquired facial asymmetry, as demonstrated in the photograph, is known as Parry-Romberg syndrome, or hemifacial atrophy. It involves both skeletal and soft tissue, and it is characterized by slow atrophy of the tissues of half of the face. It typically appears between the ages of 5 and 15 years, and it can be associated with neurologic symptoms such as seizures and trigeminal neuralgia. Facial atrophy usually begins in the temporal and/or nasolabial fold region and progresses to involve the mouth, the area around the eye, and the brow. Many patients go on to develop atrophy of half of the upper lip and tongue and exposure or damage to the roots of teeth on the affected side. The skin overlying the affected areas may become hyperpigmented. The atrophy may progress slowly and plateau, or it may progress indefinitely. The etiology of Parry-Romberg syndrome is unknown and occurs sporadically. Bell palsy is a mononeuropathy involving cranial nerve VII and the facial nerve; it results in unilateral facial nerve paralysis. It is not usually self-limiting but may result in residual weakness in rare cases. Hemifacial microsomia is a congenital anomaly involving an underdevelopment of either one or both sides of the face. It more commonly affects the lower half of the face, resulting in mandibular hypoplasia, microtia, and vestigial remnants. Hemifacial microsomia is the second most common facial congenital difference, after cleft lip and palate. Torticollis involves tightness of the sternocleidomastoid muscle of the neck resulting in a head tilt toward the affected muscle. Patients may have a mild underdevelopment of the lower half of the face on the affected side secondary to deformational pressure. Torticollis is generally congenital, thought to be secondary to intrauterine positioning, and is treated with physical therapy.

Answer 80

The correct response is Option C. Pierre Robin sequence denotes a group of physical findings that include micrognathia or retrognathia, glossoptosis, and respiratory distress with or without cleft palate. Once thought to be a syndrome, it is now understood to be a developmental sequence; ie, ?a pattern of multiple anomalies derived from a single known or presumed prior anomaly or mechanical factor.? The underdeveloped (micrognathia) or retropositioned (retrognathia) mandible limits space for the growing tongue and forces it to assume a posterior/elevated position in the oropharynx (glossoptosis). This leads to delayed elevation/fusion of the palatal shelves (cleft palate) and respiratory distress. The mandibular anomaly in Pierre Robin sequence is causally heterogeneous and can result from either a malformation (eg, Stickler syndrome), a disruption (eg, amniotic band syndrome), or deformation (eg, oligohydramnios). Nearly half of all cases have an identifiable syndrome, and over 40 associated syndromes have been described. In syndromic Pierre Robin sequence, over 40% are Stickler, which is caused by one of three collagen mutations (type II, COL2A1 is the most common) Stickler patients have wide phenotypic variability that often results in delayed or missed diagnosis in minor cases. Clinical findings associated with Stickler syndrome are ocular problems (retinal detachment, myopia, and blindness), facial abnormalities (flat nose, small mandible, or cleft palate), hearing loss, and degenerative joint disease and pain. Although patients with Beckwith-Wiedemann syndrome, facial microsomia, Treacher Collins syndrome, and velocardiofacial syndrome may have symptoms of Pierre Robin sequence, these associations are significantly less common than Stickler syndrome.

Answer 81

The correct response is Option A. The patient described has Apert syndrome. This autosomal dominant syndrome is characterized by bicoronal craniosynostosis that leads to turribrachycephaly, mid face hypoplasia, and complex hand and feet syndactyly. Patients with Crouzon syndrome, an autosomal dominant disorder, typically have craniosynostosis involving the coronal, sagittal, and lambdoid sutures, as well as turribrachycephaly. Other findings include mid face hypoplasia, exorbitism, and proptosis. The extremities are normal. Goldenhar syndrome, or oculoauriculovertebral dysplasia, involves asymmetry of the hard and soft tissues of the face. This condition is most commonly unilateral but may be seen bilaterally in some patients. Manifestations of this syndrome include hypoplasia involving the mandible and underlying soft tissues of the face, epibulbar dermoids, and varied degrees of microtia on the affected side. Most patients have associated vertebral abnormalities. Nager syndrome, or acrofacial dysostosis, is an autosomal recessive disorder characterized by craniofacial and upper extremity abnormalities. Patients with Nager syndrome have hypoplasia of the orbits, zygoma, maxilla, mandible, and soft palate. Auricular defects may also be present. Hypoplasia or agenesis occurs in the radius, thumbs, and metacarpals. Some patients may have radioulnar synostosis and elbow joint deformities. Patients with Treacher Collins syndrome, or mandibular dysostosis, have hypoplasia of the zygoma, maxilla, and mandible, downward slanting of the palpebral fissures, colobomas of the lower eyelids, absence of eyelashes, and auricular defects.

Answer 82

The correct response is Option B. The patient described has progressive hemifacial atrophy, or Parry-Romberg syndrome (PRS). This rare disorder is characterized by progressive wasting of the skin and subcutaneous tissues, and, in some cases, the muscle and bone of the face. It is typically unilateral. Age of onset is the first or second decade of life in most cases. Progression of the wasting may continue for several years. The etiology is unknown, but autoimmune, infectious, neurologic, and traumatic causes have all been implicated in various cases and investigations, and it is considered by many to be part of the spectrum of linear scleroderma. Lacking any adequate medical treatment, PRS is typically allowed to run its course, with reconstruction of the resulting defects with fat injection, soft-tissue augmentation with free tissue transfer, bone grafting, and orthognathic surgery as indicated. Neurologic symptoms are commonly associated with PRS, including seizures, migraine, Horner syndrome, and hemiplegia. Various ophthalmologic conditions are also common. Abnormalities are frequently seen on MRI of the brain, even in the absence of neurologic symptoms, and therefore MRI of the brain is indicated such that these abnormalities might be investigated further as needed. Defects in the skin may also occur elsewhere in the body, but bony abnormalities of the extremities or abnormalities of the chest, abdomen, or neck are not typically found. Therefore, the other imaging studies listed would not be expected to yield useful information in most cases of PRS. Other appropriate tests might include serology for viral or autoimmune etiologies of PRS.

Answer 83

The correct response is Option A. The presence of epibulbar dermoids is a key clinical finding that distinguishes Goldenhar syndrome from hemifacial microsomia. Although Goldenhar syndrome is also frequently associated with defects of cranial nerve VII, this finding is also commonly described in other craniofacial anomalies, including hemifacial microsomia. A port-wine stain present within the V1 or V2 distribution is suggestive of potential Sturge-Weber syndrome. Van der Woude syndrome is commonly associated with lower lip pits as well as cleft lip/palate. Upper lid colobomas are often described in relation to hemifacial microsomia, of which Goldenhar syndrome is a variant.

Answer 84

The correct response is Option B. Although von Graefe described a case of congenital facial diplegia in 1880, the syndrome was reviewed and defined further by Paul Julius MÃ¶bius, a German neurologist, in 1888 and 1892. Because of these contributions, MÃ¶bius is now the eponym used to describe the syndrome. In most studies, MÃ¶bius syndrome is defined as congenital facial weakness combined with abnormal ocular abduction €“ weakness of cranial nerves VII and VI. The typical phenotypic appearance of an affected individual includes an immobile facial appearance and ocular palsy. A mask-like facial appearance is pathoneumonic. Additional musculoskeletal abnormalities occur in one third of patients with MÃ¶bius syndrome. The typical physical features of Treacher Collins syndrome include downward slanting eyes, lower eyelid colobomas, micrognathia, conductive hearing loss, underdeveloped zygoma, and malformed or absent ears. This is also considered the combination of Tessier No. 6, 7, and 8 clefts. Poland syndrome is characterized by underdevelopment or absence of the pectoralis muscle on one side. Syndactyly often occurs on the ipsilateral hand. There are no associated facial anomalies. Pierre Robin is not a syndrome but rather a sequence or a collection of physical findings that appear together. Phenotype includes micrognathia, glossoptosis, and cleft palate. Breathing and eating difficulty often results. Klippel-TrÃ©naunay syndrome is characterized by a triad of port-wine stain, varicose veins, and bony and soft-tissue hypertrophy involving an extremity.

Answer 85

The correct response is Option C. The patient described has Pierre Robin sequence. These patients have micrognathia and glossoptosis; sometimes they will have a cleft palate in addition to the other findings. Most patients do not require operative intervention to correct their mandibular hypoplasia. The most important first step is airway control. These patients have airway obstruction secondary to the large size of their tongue relative to their diminutive mandible. Placing them in prone position allows for the tongue and jaw to fall forward, frequently alleviating their airway problems. Should this be insufficient, tongue-lip adhesion is a possibility. Many surgeons would consider a more thorough evaluation of the airway endoscopically and by CT scan to decide on subsequent management. Should the airway obstruction be tongue-based as expected, bilateral mandibular distraction could be considered. If lower airway anomalies are also present, then tracheostomy is more appropriate.

Answer 86

The correct response is Option E. The physical findings described are consistent with deformational (positional) plagiocephaly. In contradistinction to craniosynostosis, deformational plagiocephaly will demonstrate deviation of the nasal root away from the side of the forehead with flattening, and the supraorbital rim will be depressed or lowered. Physical findings are sufficient in the scenario described to diagnose the child without CT scan. Occupational and physical therapy should be instituted to encourage behaviors such as head-turning to the right and tipping the top of the head to the left shoulder. In cases that are either severe or are diagnosed late, molding helmets may be advisable.

Answer 87

The correct response is Option D. Parry-Romberg syndrome is a progressive hemifacial atrophy that follows a specific distribution of one or more branches of the trigeminal nerve (cranial nerve V). It involves the skin, soft tissue, cartilage, and bone and was first described in 1825 by Parry and then in 1846 by Romberg. The epidemiology shows a female-to-male ratio of 1.5:1. It can appear in early infancy or adolescence. The etiology is unclear, and theories include a genetic alteration in the embryogenesis of the central nervous system, loss of the cervical sympathetic nerve after neuritis, and viral or bacterial infection.

Answer 88

The correct response is Option E. Bilateral lower eyelid colobomas are commonly found in patients with Treacher Collins syndrome (TCS). TCS is also known as mandibulofacial dysostosis, first and second branchial arch syndrome, and Franceschetti-Zwahlen-Klein syndrome. Edward Treacher Collins described the syndrome in 1900. It is autosomal dominant with variable penetrance and has an incidence of 1 in 7000 live births. TCS has significant dysmorphology, which includes lower eyelid colobomas, cleft and hypoplastic zygomas, cleft lateral orbit, hypoplastic mandible, lateral canthal vertical dystopia, antimongolian palpebral fissure, ear deformities, long anterior sideburns, anterior open bite, cleft palate, and macrostomia. Crouzon, Apert, and Saethre-Chotzen syndromes involve craniosynostosis, typically bicoronal. Patients with these syndromes also have underdevelopment of the mid face. They do not have eyelid abnormalities. Patients with Apert syndrome also may have a cleft palate and syndactyly of the hands and feet. Goldenhar syndrome involves epibulbar dermoids of one or both eyes and underdevelopment of one or both sides of the face. It is also known as hemifacial and bifacial microsomia. The soft tissue and the bone are hypoplastic.

Answer 89

The correct response is Option E. Motion at the temporomandibular joint (TMJ) is best appreciated by placing one €™s fingers either inside the external auditory canal or just anterior to it. The sensation of clicking when the jaw is repeatedly opened and closed is usually caused by subluxation of the articular disk. The disk normally lies centrally between the two joint spaces. Conservative treatment involves adjustment of the patient €™s bite with a splint, anti-inflammatory drugs, and physical therapy. Surgical treatment is reserved for patients who fail conservative therapy. Air within the joint space may occur following open fractures of the mandibular condyle. The presence of a foreign body within the joint space produces pain and decreased range of motion rather than clicking. Similar symptoms are also noted in patients with degenerative disease affecting the TMJ.

Answer 90

The correct response is Option A. The most likely diagnosis in the scenario described is a dermoid cyst. Nasal dermoids are the most common congenital nasal mass. Dermoid cysts most often occur in children in the lateral brow or midline glabellar region. They generally grow slowly, and intracranial communication should be ruled out with either a CT scan or MRI. Intracranial communication is less likely in this scenario because there is no broadening of the nasal root or increased intercanthal distance. An encephalocele is a midline malformation that is present at birth and addressed shortly thereafter. On physical examination, it would be soft and mobile. CT scan or MRI would confirm this diagnosis. A hemangioma or encephalocele may change size with crying. A glioma is heterotopic neural tissue left during the regression of neurologic tissue during embryonic development. Like an encephalocele, broadening of the nasal root and widened intercanthal distance are common. A hemangioma typically presents with sporadic growth during the first 12 months of life, then it reaches a plateau and eventually regresses in most cases. On physical examination, this would be neither fixed nor firm and is typically discolored. A pilomatricoma is a rare, benign, circumscribed epithelial neoplasm that is derived from hair matrix cells. It is classically not fixed and very superficial.

Answer 91

The correct response is Option E. Craniosynostosis results in characteristic changes to the cranium. The metopic suture is different because unlike other calvarial sutures that ultimately fuse in the third decade of life, it normally closes before 12 months of age. Accordingly, the finding of a closed suture at this age is not abnormal. The phenotype associated with premature (or pathological) metopic fusion is trigonocephaly ( €œtriangle head €). Patients present with a midline forehead prominence, a variable degree of frontal and lateral orbital narrowing, bilateral parietal widening, and hypotelorism. In contrast, the presence of an isolated metopic ridge is a normal variant. It is the shape of the fronto-orbital region that determines the need for operative intervention. The CT scans clearly demonstrate metopic fusion; plain x-ray studies are not necessary to confirm the diagnosis. Because the patient described has only an isolated metopic ridge (not trigonocephaly), operative treatment is not warranted. Additionally, endoscopic strip craniectomy is generally not effective after 3 months of age. Mutations in fibroblast growth factor receptors 1, 2, and 3 have been identified in unilateral and bilateral coronal synostosis but not in isolated metopic synostosis.

Answer 92

The correct response is Option A. The patient described has neurofibromatosis 1 (NF1), an autosomal genetic disorder that leaves affected individuals at risk for developing a variety of benign and malignant tumors. The most common tumors are neurofibromas and optic gliomas. Plexiform neurofibromas are clinically present in approximately 25% of patients. This type of neurofibroma consists of a network of neurofibroma tissue and grows along the length of nerves, often involving multiple nerve fascicles, branches, and plexi. Individuals with NF1 have a 7 to 13% lifetime risk of developing a malignant peripheral nerve sheath tumor (MPNST), which usually arises in a pre-existing plexiform neurofibroma. Diagnosis of a MPNST is problematic within the context of NF1 because the emergence of a lump is not unusual. The clinical symptoms of malignancy are intertwined with the symptoms of benign tumors. Rapid growth and other symptoms, such as pain, are indications for the need for a biopsy.

Answer 93

•Physiologic or normal closure of the metopic suture occurs prior to any of the other sutures listed. Recent studies report a potentially even earlier closure of the metopic, at six months, than previously thought. Prior to this most recent study, the metopic was thought to close normally around 2 years of age. All of the other sutures begin closure much later with the closure progression being sagittal (22 years), coronal (24 years), lambdoid (26 years), and the squamosal (35 years).

Answer 94

* Goldenhar syndrome (oculoauriculovertebral spectrum) is a subset of hemifacial microsomia and, in addition to microsomia of the face, includes vertebral anomalies and/or epibulbar dermoids (as shown in the photograph). * Stickler syndrome, or hereditary arthro-ophthalmopathy, presents with flat facies, myopia, and spondyloepiphyseal dysplasia and is associated with clefts of the palate. * Treacher Collins syndrome is also known as mandibulofacial dysostosis. Patients with Treacher Collins have bilateral Tessier No. 6, 7, and 8 clefts and present with mandibular deformities, lower eyelid colobomas, auricular deformities, and hypoplastic zygomas. * Patients with van der Woude syndrome present with lower lip pits, with or without cleft lip, with or without missing second premolars. * Velocardiofacial syndrome, or the 22q.11 deletion, is found in 8% to 10% of isolated clefts of the palate and is associated with heart anomalies, velopharyngeal dysfunction, and other conditions.

Answer 95

* The patient described has unilateral coronal synostosis. The most common presenting symptom is ipsilateral anterior forehead flattening, or plagiocephaly. This finding can be seen in patients with deformational plagiocephaly. Several anatomic features can be used to differentiate these two different etiologies of plagiocephaly. * Synostotic plagiocephaly is caused by early fusion of the coronal suture on the affected side, or unicoronal synostosis. It is far less common than deformational plagiocephaly, which is thought to be caused by intrauterine deformational forces acting in the fetal skull. * In synostotic plagiocephaly, there is widening of the ipsilateral palpebral fissure, superior and posterior displacement of the supraorbital rim and eyebrow on the affected side, a higher ipsilateral ear, and deviation of the nasal root toward the affected side. The anterior fontanelle is displaced away from the affected side. The appropriate surgical procedure to correct synostotic plagiocephaly is a fronto-orbital advancement procedure. Resection of the left coronal suture will eliminate the abnormal suture but will not correct the other facial deformities. * In contrast, in deformational plagiocephaly, there is an ipsilateral narrowing of the palpebral fissure with a lower eyebrow, an inferiorly positioned ipsilateral ear, and a normal nasal root and anterior fontanelle. The cranial vault looks compressed from the forehead to the opposite occiput. Possible treatment options for deformational plagiocephaly include repositioning of the child during sleep and molding helmet therapy. * A monobloc advancement procedure involves repositioning of both the forehead and midface in a single operation and is not indicated to treat plagiocephaly.

Answer 96

•The patient described with Crouzon disease and a hypoplastic mid face has an Angle class III malocclusion. Angle class I is characterized by the alignment of the mesiobuccal cusp of the maxillary first molar with the mesiobuccal groove of the mandibular first molar. Angle class II is characterized by the alignment of the buccal groove of the lower first molar distal to the mesiobuccal cusp of the upper first molar. Angle class II division 1 is associated with flaring of the maxillary incisors and increased overjet. Angle class II division 2 is associated with lingually displaced maxillary teeth and excessive labial inclination of the maxillary central incisors. Angle class III is characterized by the alignment of the buccal groove of the lower first molar mesial (anterior) to the mesiobuccal cusp of the upper first molar.

Answer 97

•The patient described has a Tessier No. 7 facial cleft, which involves the soft tissue of the oral commissure, sideburns, and external ear (shown below). The bony involvement generally traverses the zygomatic arch and maxillary second molar.

Answer 98

•Stickler syndrome accounts for 25% of syndromic cleft palate cases. As the most common form of syndromic cleft palate, this syndrome is also associated with ocular and auditory defects. Apert syndrome is an autosomal dominant form of syndromic craniosynostosis. Although this syndrome is defined by uni- or bicoronal craniosynostosis and acrosyndactyly, palatal clefting is not recognized as a syndromic component. Saethre-Chotzen syndrome is an autosomal acrocephalosyndactyly characterized by coronal craniosynostosis, low hairline, proptosis, antimongoloid slanting of palpebral fissures, and nasal deviation. Cleft palate defects are not associated with this syndrome. Van der Woude syndrome, associated with lower lip pitting and cleft palate, accounts for 1% of syndromic cleft defects. •

Answer 99

* Methylmethacrylate is an alloplastic acrylic resin that has been used in craniofacial reconstruction, forehead augmentation, chest wall reconstruction, and, when impregnated with antibiotics, for treatment of infected long bone fractures. It is fashioned by mixing a powder with a liquid monomer. The resultant paste is formed in an exothermic reaction that can achieve temperatures of 70 °C. Therefore, it is mandatory that the paste be cooled with constant irrigation as it is applied and molded into the defect in order to prevent thermal injury. In animal craniofacial experiments, temperature elevations of 28 °C have been recorded but with subdural temperature elevations of only 0.56 °C if constant irrigation was used. * High-density porous polyethylene (Medpor) has also been used for the repair of craniofacial defects as well as in the realm of cosmetic surgery. It is prepackaged in sterile form and is available in sheets, blocks, and prefabricated shapes/implants. It does not generate exothermic reactions when contoured for use. * Nonceramic hydroxyapatite cement is based on calcium phosphate and requires mixing with water in order to form a paste before it is applied. This paste, however, is formed without an exothermic reaction. It is also resorbable and is replaced eventually with bone (though not 100% replacement many times, thereby potentially leading to a contour deformity). * Polytetrafluoroethylene (PTFE) has been used for subcutaneous augmentation (Gore-Tex), facial aesthetic surgery, vascular conduits, and even for facial implants (Proplast), although Proplast was recalled by the FDA secondary to reports of foreign body reaction and biomechanical failure. It is biologically inert and noncarcinogenic, and it also does not give off an exothermic reaction when used.

Answer 100

* Romberg disease (progressive hemifacial atrophy, linear scleroderma, Parry-Romberg) is a progressive atrophy of one side of the face. Patients with Romberg disease often have a pigmented streak on the forehead, progressing to the"coupe de sabre" or facial depression. There is progressive atrophy of the skin, subcutaneous tissue, and bone. Many believe that it is a subset of localized or linear scleroderma. * Patients with Binder syndrome, or nasomaxillary or premaxillary hypoplasia, have low-set and flat nasal tip, a short, retracted columella, Class III occlusion, and a columella and upper lip that is"drawn into" the floor of the nostrils. * Fibrous dysplasia is a bony dysplasia, presenting as localized bony deformity (ground glass appearance on CT scan). Fibrous dysplasia may be limited to a localized area (monostotic) or may be generalized, affecting many sites (polyostotic), and is called McCune-Albright syndrome. * Goldenhar syndrome (oculoauriculovertebral spectrum) is a subset of hemifacial microsomia and, in addition to microsomia of the face, includes vertebral anomalies and/or epibulbar dermoids. * Treacher Collins syndrome is also known as mandibulofacial dysostosis. Patients with Treacher Collins have bilateral Tessier No. 6, 7, and 8 clefts and present with mandibular deformities, lower eyelid colobomas, auricular deformities, and hypoplastic zygomas. •

Answer 101

* Patients with velocardiofacial syndrome (VCF) typically demonstrate velopharyngeal insufficiency, which results in a hypernasal quality of speech. VCF is a result of a 22q11.2 deletion and has a wide spectrum of anomalies. The palate abnormality in VCF can vary from palatal weakness to a submucous or complete cleft of the palate. The characteristic facies are malar flattening, narrow palpebral fissures, small ears, vertical maxillary excess, and relative mandibular retrusion. The cardiovascular anomalies include ventricular septal defect, tetralogy of Fallot, and right-sided aortic arch. In planning surgery for velopharyngeal insufficiency, the most important finding is medial displacement of the carotid artery into the pharynx. Learning disabilities and psychiatric disorders are also seen in varying degrees in patients with VCF. * Crouzon, Pfeiffer, and Saethre-Chotzen syndromes all involve craniosynostosis, and patients do not have palatal issues resulting in velopharyngeal insufficiency. Hemifacial microsomia is the second-most common facial deformity after cleft lip and palate. There is a marked variability in presentation from mild to severe affecting one side of the face, including the ear, mandible, cranial nerve VII, and the soft tissue.

Answer 102

The correct response is Option D. The patient shown has Romberg disease (progressive hemifacial atrophy). This is a unilateral condition that affects girls more commonly than boys, and onset is in childhood with progression from 2 to 10 years of age. It usually involves skin, subcutaneous tissue, muscle, and bone but spares the cranial nerves and their function. Treatment is complex, with reconstruction of facial bone structure and augmentation followed by cutaneous contour correction with free tissue transfer. Parascapular flap is the flap of choice. Unilateral coronal craniosynostosis can result in incomplete correction of vertical dystopia, secondary to continued growth constriction at the affected side cranial base. Soft-tissue loss and lower face asymmetry are not associated features. Hemifacial microsomia is a congenital, nonprogressive abnormality of the first branchial arch derivatives (ie, mandible and auricle). The mandibular ramus and condyle are variably hypoplastic, and overlying soft tissues (muscle, subcutaneous fat) are often hypoplastic. Ipsilateral macrostomia (transverse facial cleft) can also present in this syndrome. Goldenhar syndrome is a variant of craniofacial microsomia and is distinguished by presence of concomitant ocular abnormalities, including epibulbar dermoid.

Answer 103

The correct response is Option B. Craniofacial microsomia represents the second most common congenital anomaly affecting the head and neck behind cleft of the lip and/or palate. Multiple craniofacial and other anomalies are commonly seen as part of the constellation of findings. The most common anomalies are those affecting the mandible (89% to 100%) and ear (66% to 99%). Less common associations that must be sought involve the vertebrae and ribs (16% to 60%), ipsilateral facial nerve (10% to 45%), and genitourinary structures (4% to 15%), among others.

Answer 104

The correct response is Option B. In the United States, encephaloceles are most common in the occipital location. In Asia, they are more common in the frontoethmoidal region. The prognosis with these malformations depends upon the presence or absence of herniated brain tissue in the encephalocele.

Answer 105

The correct response is Option A. Albright syndrome is the only syndrome listed that affects calcium and phosphate metabolism. It is caused by an autosomal-dominant mutation affecting receptor binding to adenylate cyclase. The resultant craniofacial malformations include a low nasal bridge and a short neck. Binder syndrome is manifested by maxillary hypoplasia and midface retrusion. Carpenter syndrome is a rare autosomal-recessive condition that results in brachycephaly due to variable synostoses, in addition to defects of the cardiovascular, musculoskeletal, and genital systems. Down syndrome is caused by trisomy of the 21st chromosome. Craniofacial manifestations include brachycephaly, a low nasal bridge, and inner epicanthal folds. Ectodermal dysplasia is an X €‘linked recessive syndrome that results in hypoplastic skin and sparse dermal appendages.

Answer 106

The correct response is Option D. This infant has premature obliteration of her right lambdoid suture (lambdoid synostosis), resulting in posterior plagiocephaly. Lambdoid synostosis is treated with posterior vault expansion and remodeling. Without treatment, increased intracranial pressure can occur. Modification of the infant €™s sleep position and use of molding helmet therapy are appropriate treatments for plagiocephaly caused by deformation forces, but not for plagiocephaly caused by lambdoid synostosis. Bilateral fronto-orbital advancement and remodeling is not appropriate for managing lambdoid synostosis because the synostosis and skull asymmetry are of the posterior vault. Management of posterior plagiocephaly requires differentiation of occipitoparietal flattening caused by lambdoid synostosis from that caused by deformation forces because deformational plagiocephaly does not require surgical correction. However, the two entities are often difficult to distinguish. Lambdoid synostosis causes a more trapezium €‘shaped skull with occipitoparietal flattening and an ipsilateral mastoid bulge. The ipsilateral ear is posteriorly positioned in relation to the other ear. Deformational plagiocephaly causes a parallelogram €‘shaped skull and displaces the ipsilateral ear anteriorly.

Answer 107

The correct response is Option A. The anterior nasal spine is absent in patients with Binder syndrome. In 1962, Von Binder described a form of nasomaxillary hypoplasia that included nasomaxillary hypoplasia, a convex lip, a vertically short nose, a flat frontonasal angle, an absent anterior nasal spine, limited nasal mucosa, and hypoplastic frontal sinuses. It is believed to be caused by a disturbance of the prosencephalic induction center at a critical phase in development.

Answer 108

The correct response is Option E. Surgical management of plagiocephaly is not indicated at this young age. Since the €œback €‘to €‘sleep € campaign began recommending that young children be placed on their backs to sleep in an effort to limit the incidence of sudden infant death syndrome (SIDS), many children have been referred for evaluation of plagiocephaly. Physical examination continues to be the diagnostic method for separating plagiocephaly as a result of positional molding (ie, external pressures) from synostotic plagiocephaly. Positional plagiocephaly results from external pressure on the skull €”in this case, the right posterior skull. As the brain grows, it pushes the ipsilateral structures forward, including the zygomatic complex, forehead, and ear. From a vertex view, the skull takes on the appearance of a parallelogram. In contrast, when a growth suture is fused as in craniosynostosis, growth is restricted perpendicular to the suture and accelerated parallel to that suture (Virchow €™s Law). In cases of suspected lambdoid synostosis, the growth of the contralateral forehead is accelerated and the contralateral structures (such as the ear) are advanced. From the vertex, the skull becomes trapezoid in appearance. Similarly from a posterior view, there is ipsilateral mastoid bossing and the tilt. A CT scan may be obtained for many reasons but is not necessary to establish the diagnosis in this patient. Physical examination should be adequate to diagnose positional plagiocephaly. Treatment of positional plagiocephaly initially involves behavioral changes and frequent repositioning of the infant. Prone playtime activities are encouraged. Sometimes physical therapy is required. Custom helmet molding therapy is recommended for severe skull asymmetry or for patients with other developmental issues that would complicate behavioral modifications or repositioning techniques. In this child, poor muscle tone and slight developmental delay lead us to recommend helmet therapy. It is not unusual for the posterior fontanelle to be closed at this time.

Answer 109

* Posterior deformational plagiocephaly, resulting from a persistent head position during sleep, occurs frequently, is different from craniosynostosis, and is treated with either successful repositioning in sleep or cranial molding helmet therapy. Clinically, posterior deformational plagiocephaly presents with ipsilateral occipital head flattening, ipsilateral forehead displacement, ipsilateral ear forward displacement, and an overall parallelogram-shaped head when viewed from the top-down position. The skull base is horizontal, level, and unaffected in posterior deformational plagiocephaly. * Unilateral lambdoid craniosynostosis also presents with ipsilateral occipital flattening. Because the lambdoid suture is fused, compensatory growth, parallel to the fused suture, results in contralateral parietal bossing and ipsilateral mastoid bulging resulting in a canted skull base. This produces an overall trapezoid head shape when viewed from the top-down position.

Answer 110

The correct response is Option A. The CT scan demonstrates a patient with the type IIb mandibular deformity of hemifacial or craniofacial microsomia. Patients with hemifacial microsomia with associated epibulbar dermoids and spinal or scapular deformities are classified as having Goldenhar syndrome. Van der Woude syndrome is an autosomal-dominant cleft lip/palate syndrome. The defining feature in addition to cleft lip and/or palate is €œlip pits. € These lip pits are often found on the lower lip and are accessory salivary glands. Velocardiofacial syndrome (previously known as DiGeorge syndrome, conotruncal anomaly, Sphrintzen syndrome, Catch-22 syndrome, and 22 minus syndrome) is a syndrome diagnosed by the addition or deletion of the 22q.11 gene. Common findings include congenital heart anomalies, clefting and velopharyngeal insufficiency, and facies that include a broad nasal root and narrow alar bases, elongated face with low tone, low-set ears with folded helixes, malar flattening, and retrognathia. It is estimated that up to 8% to 10% of patients with isolated cleft palate carry the 22q.11 deletion/addition. Treacher Collins syndrome or mandibulofacial dysostosis has three pathognomonic features: lower eyelid colobomas, zygomatic hypoplasia with hypoplastic or absent zygomas and inferolateral orbital rim clefting, and bilateral mandibular hypoplasia. Bilateral ear anomalies ranging from simple deformities to complete microtia are often additional findings. Stickler syndrome is associated with Pierre Robin sequence (micrognathia, glossoptosis, respiratory distress, and possibly cleft palate) and includes possible skeletal anomalies as well as optical conditions such as myopia.

Answer 111

The correct response is Option C. The most common facial cleft is a Tessier No. 7. This is a cleft that begins at the lateral oral commissure and extends laterally. From a soft-tissue standpoint, it creates macrostomia. A Tessier No. 0 cleft involves the midline of the upper lip and nose. The Tessier No. 14 cleft is the cranial extension of this. A Tessier No. 3 cleft involves the lateral nasal ala and the medial canthus of the eye. A Tessier No. 9 cleft is actually the least common cleft. It extends from the superolateral orbit into the temporal region.

Answer 112

The correct response is Option B. Craniofacial microsomia represents the second most common congenital anomaly affecting the head and neck behind cleft of the lip and/or palate. Multiple craniofacial and other anomalies are commonly seen as part of the constellation of findings. The most common anomalies are those affecting the mandible (89% to 100%) and ear (66% to 99%). Less common associations that must be sought involve the vertebrae and ribs (16% to 60%), ipsilateral facial nerve (10% to 45%), and genitourinary structures (4% to 15%), among others.

Answer 113

The correct response is Option B. In the United States, encephaloceles are most common in the occipital location. In Asia, they are more common in the frontoethmoidal region. The prognosis with these malformations depends upon the presence or absence of herniated brain tissue in the encephalocele.

Answer 114

The correct response is Option C. The most common facial cleft is a Tessier No. 7. This is a cleft that begins at the lateral oral commissure and extends laterally. From a soft-tissue standpoint, it creates macrostomia. A Tessier No. 0 cleft involves the midline of the upper lip and nose. The Tessier No. 14 cleft is the cranial extension of this. A Tessier No. 3 cleft involves the lateral nasal ala and the medial canthus of the eye. A Tessier No. 9 cleft is actually the least common cleft. It extends from the superolateral orbit into the temporal region.

Answer 115

The correct response is Option A. Albright syndrome is the only syndrome listed that affects calcium and phosphate metabolism. It is caused by an autosomal-dominant mutation affecting receptor binding to adenylate cyclase. The resultant craniofacial malformations include a low nasal bridge and a short neck. Binder syndrome is manifested by maxillary hypoplasia and midface retrusion. Carpenter syndrome is a rare autosomal-recessive condition that results in brachycephaly due to variable synostoses, in addition to defects of the cardiovascular, musculoskeletal, and genital systems. Down syndrome is caused by trisomy of the 21st chromosome. Craniofacial manifestations include brachycephaly, a low nasal bridge, and inner epicanthal folds. Ectodermal dysplasia is an X €‘linked recessive syndrome that results in hypoplastic skin and sparse dermal appendages.

Answer 116

The correct response is Option E. The appearance of the patient shown demonstrates Treacher Collins syndrome, characterized by bilaterally symmetrical abnormalities of structures within the first and second branchial arches. Features include a convex facial profile with a retrusive lower jaw and chin, anti €‘mongoloid slant of the palpebral fissures, lower lid colobomas, partial absence of eyelid cilia, absent or malformed external ears, hypoplasia of the malar bones, and variable cleft palate. Binder syndrome is characterized by nasomaxillary hypoplasia. Apert, Crouzon, and Pfeiffer syndromes are all craniosynostotic syndromes that result in midfacial hypoplasia and a concave facial profile of varying degrees.

Answer 117

The correct response is Option E. Dermoid cysts of the craniofacial region represent about 7% of all dermoid cysts and have an incidence of around 1 in 1000 live births. These masses can arise in multiple anatomic locations on the head, including the lateral eyebrow (sometimes referred to as an angular dermoid), midline nose, glabella, medial canthus, temporal or occipital scalp, frontal/anterior fontanel, and postauricular sulcus. Intracranial extension occurs in midline nasal dermoid cysts (13% below and 0% above the nasofrontal suture), frontal/fontanel (36.8%), temporal (16.2%), and occiput (16.3%), while this almost never occurs in the remaining locations (lateral brow, parietal, medial canthus, auricular). Cysts of the lateral brow represent almost two-thirds of all craniofacial dermoid cysts, and intracranially, extension or contact with the dura does not occur. Thus, the diagnosis is clinical, and further imaging in a child this young is not warranted. Overland et al. advocate imaging (CT or MRI) in older patients (\>2 years of age) due to an increased risk for orbital extension with growth.

Answer 118

The correct response is Option E. Surgical management of plagiocephaly is not indicated at this young age. Since the €œback €‘to €‘sleep € campaign began recommending that young children be placed on their backs to sleep in an effort to limit the incidence of sudden infant death syndrome (SIDS), many children have been referred for evaluation of plagiocephaly. Physical examination continues to be the diagnostic method for separating plagiocephaly as a result of positional molding (ie, external pressures) from synostotic plagiocephaly. Positional plagiocephaly results from external pressure on the skull €”in this case, the right posterior skull. As the brain grows, it pushes the ipsilateral structures forward, including the zygomatic complex, forehead, and ear. From a vertex view, the skull takes on the appearance of a parallelogram. In contrast, when a growth suture is fused as in craniosynostosis, growth is restricted perpendicular to the suture and accelerated parallel to that suture (Virchow €™s Law). In cases of suspected lambdoid synostosis, the growth of the contralateral forehead is accelerated and the contralateral structures (such as the ear) are advanced. From the vertex, the skull becomes trapezoid in appearance. Similarly from a posterior view, there is ipsilateral mastoid bossing and the tilt. A CT scan may be obtained for many reasons but is not necessary to establish the diagnosis in this patient. Physical examination should be adequate to diagnose positional plagiocephaly. Treatment of positional plagiocephaly initially involves behavioral changes and frequent repositioning of the infant. Prone playtime activities are encouraged. Sometimes physical therapy is required. Custom helmet molding therapy is recommended for severe skull asymmetry or for patients with other developmental issues that would complicate behavioral modifications or repositioning techniques. In this child, poor muscle tone and slight developmental delay lead us to recommend helmet therapy. It is not unusual for the posterior fontanelle to be closed at this time.

Answer 119

The correct response is Option D. This infant has premature obliteration of her right lambdoid suture (lambdoid synostosis), resulting in posterior plagiocephaly. Lambdoid synostosis is treated with posterior vault expansion and remodeling. Without treatment, increased intracranial pressure can occur. Modification of the infant €™s sleep position and use of molding helmet therapy are appropriate treatments for plagiocephaly caused by deformation forces, but not for plagiocephaly caused by lambdoid synostosis. Bilateral fronto-orbital advancement and remodeling is not appropriate for managing lambdoid synostosis because the synostosis and skull asymmetry are of the posterior vault. Management of posterior plagiocephaly requires differentiation of occipitoparietal flattening caused by lambdoid synostosis from that caused by deformation forces because deformational plagiocephaly does not require surgical correction. However, the two entities are often difficult to distinguish. Lambdoid synostosis causes a more trapezium €‘shaped skull with occipitoparietal flattening and an ipsilateral mastoid bulge. The ipsilateral ear is posteriorly positioned in relation to the other ear. Deformational plagiocephaly causes a parallelogram €‘shaped skull and displaces the ipsilateral ear anteriorly.

Answer 120

The correct response is Option A. The anterior nasal spine is absent in patients with Binder syndrome. In 1962, Von Binder described a form of nasomaxillary hypoplasia that included nasomaxillary hypoplasia, a convex lip, a vertically short nose, a flat frontonasal angle, an absent anterior nasal spine, limited nasal mucosa, and hypoplastic frontal sinuses. It is believed to be caused by a disturbance of the prosencephalic induction center at a critical phase in development.

Answer 121

The correct response is Option A. The CT scan demonstrates a patient with the type IIb mandibular deformity of hemifacial or craniofacial microsomia. Patients with hemifacial microsomia with associated epibulbar dermoids and spinal or scapular deformities are classified as having Goldenhar syndrome. Van der Woude syndrome is an autosomal-dominant cleft lip/palate syndrome. The defining feature in addition to cleft lip and/or palate is €œlip pits. € These lip pits are often found on the lower lip and are accessory salivary glands. Velocardiofacial syndrome (previously known as DiGeorge syndrome, conotruncal anomaly, Sphrintzen syndrome, Catch-22 syndrome, and 22 minus syndrome) is a syndrome diagnosed by the addition or deletion of the 22q.11 gene. Common findings include congenital heart anomalies, clefting and velopharyngeal insufficiency, and facies that include a broad nasal root and narrow alar bases, elongated face with low tone, low-set ears with folded helixes, malar flattening, and retrognathia. It is estimated that up to 8% to 10% of patients with isolated cleft palate carry the 22q.11 deletion/addition. Treacher Collins syndrome or mandibulofacial dysostosis has three pathognomonic features: lower eyelid colobomas, zygomatic hypoplasia with hypoplastic or absent zygomas and inferolateral orbital rim clefting, and bilateral mandibular hypoplasia. Bilateral ear anomalies ranging from simple deformities to complete microtia are often additional findings. Stickler syndrome is associated with Pierre Robin sequence (micrognathia, glossoptosis, respiratory distress, and possibly cleft palate) and includes possible skeletal anomalies as well as optical conditions such as myopia.

Answer 122

The correct response is Option D. The patient shown has Romberg disease (progressive hemifacial atrophy). This is a unilateral condition that affects girls more commonly than boys, and onset is in childhood with progression from 2 to 10 years of age. It usually involves skin, subcutaneous tissue, muscle, and bone but spares the cranial nerves and their function. Treatment is complex, with reconstruction of facial bone structure and augmentation followed by cutaneous contour correction with free tissue transfer. Parascapular flap is the flap of choice. Unilateral coronal craniosynostosis can result in incomplete correction of vertical dystopia, secondary to continued growth constriction at the affected side cranial base. Soft-tissue loss and lower face asymmetry are not associated features. Hemifacial microsomia is a congenital, nonprogressive abnormality of the first branchial arch derivatives (ie, mandible and auricle). The mandibular ramus and condyle are variably hypoplastic, and overlying soft tissues (muscle, subcutaneous fat) are often hypoplastic. Ipsilateral macrostomia (transverse facial cleft) can also present in this syndrome. Goldenhar syndrome is a variant of craniofacial microsomia and is distinguished by presence of concomitant ocular abnormalities, including epibulbar dermoid.

Answer 123

The correct response is Option A. According to Tessier, the main characteristic of the complete form of Treacher Collins syndrome is the absence of the malar bone and zygomatic arch. This absence is caused by combined Tessier clefts numbers 6, 7, and 8. These clefts result in severe dysplasia or even absence of the zygoma. The number 6 cleft produces the lower eyelid findings. The number 7 cleft results in absence of the zygomatic arch, hypoplasia of the temporalis muscles, microtia, and abnormal hairline. The number 8 cleft causes inferior displacement of the lateral canthi. The other findings listed do not occur in Treacher Collins syndrome. Unlike in this child, Tessier cleft number 4 begins lateral to Cupid’s bow, passes onto the cheek, and curves onto the lower lid, disrupting the lower canaliculus. It can result in anophthalmia. Lack of formation of the mandibular ramus and condyle is typical in hemifacial microsomia. It produces asymmetric malformation, whereas Treacher Collins syndrome produces symmetric effects. Premature fusion of the coronal sutures results in acrocephaly or oxycephaly. It leads to extreme upward growth with reduced lateral and anteroposterior growth and occurs in Crouzon and Apert syndromes. Tessier cleft numbers 0 and 14 result in midline deformities, including hypertelorism and nasal deformities.

Answer 124

The correct response is Option D. The orbit, nose, and mouth are key landmarks through which craniofacial clefts cross. Tessier noted these landmarks and numbered craniofacial clefts from 0 to 14, with lower numbers (0 through 7) representing facial clefts and the higher numbers (8 through 14) representing their cranial extension. Tessier's numeric system is purely a topographic map of the cleft fault line (see diagram below); it describes the axis of the cleft but does not specifically indicate which structures (soft tissue or bone) may be involved by the cleft. The combination of cranial and facial clefts usually totals 14. Cleft 0 is in the midline of the face, whereas cleft 14 is its cranial midline extension. Clefts 1, 2, and 3 begin at the Cupid’s bow, as does the common cleft lip. Treacher Collins syndrome is a combination of clefts 6, 7, and 8. The number 7 cleft is the most common of the craniofacial clefts and is more commonly referred to as hemifacial microsomia. The clinical expression of number 7 cleft is highly variable. In the photograph, this number 7 cleft is expressed only by macrostomia at the oral commissure.

Answer 125

The correct response is Option B. Tongue-lip adhesion is performed in patients with retrognathia and glossoptosis to improve the airway. Pierre Robin sequence describes the clinical triad of microretrognathia, glossoptosis, and upper airway obstruction. Patients may present with airway obstruction, feeding difficulties, or both immediately after birth or during the following weeks of life. If left untreated, many of these infants experience failure to thrive, chronic hypoxemia, and cor pulmonale. Pierre Robin sequence may be nonsyndromic or associated with syndromes such as bifacial or hemifacial microsomia. Tongue-lip adhesion was first described as a treatment of upper airway obstruction in Pierre Robin sequence by Douglas in 1946. There has been a recent trend toward distraction osteogenesis of the infant mandible in patients who present with microretrognathia and airway obstruction. However, the long-term effects of distraction on the infant mandible have not been well studied. The efficacy of tongue-lip adhesion in improving airway obstruction with minimal sequelae has been documented and should be considered before distraction.

Answer 126

The correct response is Option D. The papilla of the parotid is located most frequently adjacent to the maxillary second molar as it empties the secretions of the parotid gland via Stensen’s duct.

Answer 127

The correct response is Option C. The child described has Pierre Robin sequence, which is associated with the symptoms of micrognathia, glossoptosis, and respiratory distress. Children with this condition often have difficulty with feedings as well. Pierre Robin sequence is believed to result from the tongue coming between the palatal shelves in the developing fetus. These patients are managed conservatively with positioning and tube feedings if necessary. If, however, the airway cannot be protected with positioning, then surgical management includes lip-tongue adhesion, distraction osteogenesis, and if necessary, tracheostomy. Hemifacial microsomia is manifest by underdevelopment of the middle and external ear, zygoma, maxilla, and facial muscles and often is associated with a Tessier No. 7 cleft (macrostomia). Isolated cleft palate does not cause airway obstruction or micrognathia but can be associated with slow weight gain and difficulty feeding. Van der Woude syndrome is associated with cleft lip and palate and lower lip pits from accessory salivary glands. Velocardiofacial syndrome is the most common syndrome seen in association with cleft lip and palate. Other clinical manifestations associated with this syndrome include velopharyngeal insufficiency, facial and cardiac anomalies, and absence of the thymus and parathyroid glands.

Answer 128

The correct response is Option E. Möbius syndrome is a developmental disorder characterized by bilateral facial palsy and abducens nerve paralysis. Strabismus surgery is performed to correct paralysis of lateral gaze. Limb abnormalities, including clubfeet, syndactyly, and rudimentary fingers or toes, have been reported in 25% of cases. Additional cranial nerves (III, V, IX, XI, and XII) may be involved in Möbius syndrome, and some patients may present with congenital unilateral or partial facial paralysis. Hemifacial microsomia is a morphogenetic anomaly that can affect the skeletal, soft tissue, and neuromuscular structures derived from the first and second branchial arches. Typical cases have hypoplasia of the mandible that may be accompanied by hypoplasia of the zygoma and maxilla. Because the facial nerve is derived from the second branchial arch, patients with hemifacial microsomia can present with a congenital facial palsy. Goldenhar syndrome is hemifacial microsomia with epibulbar dermoids and vertebral anomalies. Apert syndrome is characterized by coronal craniosynostosis, syndactyly, and retardation. Bell palsy is a demyelinating inflammatory process of the facial nerve that classically presents as an acute unilateral facial paralysis and is believed to be caused by the herpes simplex virus.

Answer 129

The correct response is Option A. The harlequin deformity is a radiographic appearance characterized by an oblique opacity extending from inferior and medial to superior and lateral through the orbital aperture. This is caused by superior displacement of the lesser wing of the sphenoid secondary to synostosis of the coronal suture on the side of the harlequin appearance.

Answer 130

The correct response is Option D. Hypotelorism, a decrease in intraorbital distance, occurs with trigonocephaly caused by metopic synostosis and holoprosencephaly. In patients with metopic synostosis, growth is inhibited perpendicular to the synostotic metopic suture, resulting in decreased interorbital distance as well as narrowing of the forehead. Holoprosencephaly results from a breakdown in the formation of prechordal mesoderm, leading to deficiencies of the structures located in the midline and narrowing of interorbital distance. Hypertelorism, an increase in interorbital distance, is associated with numerous craniofacial disorders, including frontonasal encephalocele and median facial clefts occurring secondary to incomplete fusion of the medial orbital walls. Patients with more severe forms of craniosynostosis, such as Apert or Crouzon syndrome, may also have orbital hypertelorism. The hypertelorism seen in patients with frontonasal dysplasia occurs as a result of excess bone formation.

Answer 131

The correct response is Option B. A patient with Binder syndrome, or maxillonasal dysplasia, typically has a shortened nose with flattening of the nasal bridge and perialar regions. The columella is shortened, the nasolabial angle is acute, and the upper lip is convex. The anterior nasal spine and frontonasal angle are absent. Occlusion is Angle class III. Binder syndrome is caused by hypoplasia of the anterior nasal floor (fossa praenasalis) and localized symmetric maxillary hypoplasia in the region of the alar rims. Nasal views show a retracted columellar-lip junction, a perpendicular alar-cheek junction, a convex upper nasal tip with a wide, shallow philtrum, crescent-shaped nostrils without a sill, a low-set and flat nasal tip, and a stretched and shallowed cupid’s bow. The triangular flair typically seen at the base of the nose is instead absent. In patients with Binder syndrome, the primary goal of surgery is increasing the length of the nose and the projection of the nasal tip. This can be achieved by performing Le Fort I osteotomy, Le Fort II osteotomy, or a combination of both procedures, as well as compensatory orthodontic treatment. Autogenous bone and cartilage grafts may be required to reconstruct the nose.

Answer 132

The correct response is Option A. This infant has a nasoglabellar dermoid cyst with an intracranial component, which requires transcranial and local excision. In pediatric patients, orbitofacial dermoid cysts vary in presentation and location. They typically fall into three subgroups: brow region, orbital region, and nasoglabellar region. Most dermoid cysts are located in the lateral brow region. Typically, dermoid cysts in the brow and orbital regions do not have intracranial extension and can be excised locally. However, 10% to 45% of nasoglabellar dermoid cysts have sinus tracts and occasional intracranial extension. For dermoid cysts in this region, further studies with MRI or CT are recommended to exclude intracranial extension. Recent reports have shown frontotemporal dermoid cysts with sinus tracts that have intracranial extension. If a sinus tract with extension is encountered during local excision, further radiographic evaluation is warranted. Frontotemporal dermoid cysts may represent a distinct entity from dermoid cysts in the brow region.

Answer 133

The correct response is Option C. The photograph of this patient demonstrates animation with symmetrical function of all branches of the facial nerve with the exception of the marginal mandibular branch on the right. The marginal mandibular branch is responsible for innervation of the lower lip depressor muscle, which is nonfunctional in this patient. The second branchial cleft arch gives rise to the facial (VII) nerve. This nerve exits the skull at the stylomastoid foramen and contains motor and sensory fibers. It has six major branches: the temporal, zygomatic, buccal, mandibular, cervical, and auricular branches. The auricular branch separates before the facial nerve turns to the parotid gland. At the parotid gland, the facial nerve separates into two main divisions, the temporofacial and cervicofacial divisions, which further divide into the temporal, zygomatic, buccal, mandibular, and cervical branches. Hemifacial microsomia produces anomalies in skeletal, soft tissue, and neuromuscular structures derived from the first and second branchial arches. It is the second most common congenital facial anomaly and is unilateral in 80% of affected patients. Usually, patients have some form of microtia and hypoplasia of the mandibular ramus. They may also have macrostomia, facial paralysis, and hypoplasia of the muscles of mastication.

Answer 134

The correct response is Option E. Mutation of FGFR3, located at chromosome 4p16, has been found to cause unicoronal synostosis. This suggests a genetic basis for certain forms of synostotic frontal plagiocephaly. FGFRs regulate cell growth and bony proliferation. Mutations in FGFRs have been associated with syndromic craniosynostoses, such as in Pfeiffer, Crouzon, and Jackson-Weiss syndromes. Evaluation of patients with unicoronal synostosis showed more severe cranial dysmorphology and a higher number of surgical revisions in those with FGFR3 mutation for facial dysmorphology compared with those without the mutation. This finding has led to genetic screening for all patients with unicoronal synostosis to better counsel patients and anticipate surgical outcomes.

Answer 135

The correct response is Option A. Nonsyndromic unicoronal synostosis commonly causes anterior displacement of the ipsilateral ear toward the affected suture. It also typically results in ipsilateral flattening and contralateral bossing of the forehead and deviation of the root of the nose to the ipsilateral side toward the affected suture. Unicoronal synostosis does not typically affect occlusion on either side and is not likely to cause significant change in occipital shape.

Answer 136

The correct response is Option C. As shown below, the most appropriate classification for this cleft is Tessier number 3 because this is the only classification in which the cleft involves the nasal ala and medial canthus. A cleft classified as number 0 involves the midline of the nose. A cleft classified as number 1 or 2 involves the nasal ala but is medial to the eye. A cleft classified as number 4 or 5 is lateral to the nose and typically involves the lower eyelid.

Answer 137

The correct response is Option D. The characteristic skeletal finding in patients with Treacher Collins syndrome is hypoplasia of the malar bones, which often occurs in conjunction with clefting through the zygomatic arches. Patients also have hypoplasia of the maxilla and mandible and antegonial notching of the angle of the mandible. Occlusion is Angle class II; there is an anterior open bite and clockwise rotation of the occlusal plane. Effects on the temporomandibular joint are varied. Brachycephaly, macrogenia, preaxial polysyndactyly, and hypertelorism do not occur in patients with Treacher Collins syndrome.

Answer 138

The correct response is Option B. The Tessier classification of craniofacial clefting, which was first proposed in 1973, integrates both tissue findings and underlying skeletal deformities. According to the Tessier system, displacement of the medial canthus of the eyelid is characteristic of the No. 3 cleft. This cleft begins in the alveolus, between the lateral incisor and canine, and extends through the maxilla and into the lacrimal bone. It is often referred to as a “naso-ocular” cleft because the inferomedial wall of the orbit is absent. Other associated soft-tissue deformities include shortening of the nose, colobomas of the nasal alae and the lower eyelids medial to the punctum, obstruction of the nasolacrimal duct, and malformations of the lower canaliculus. The lip deformity is similar to cleft lip. The Tessier No. 1 cleft lies just lateral to the midline, beginning at the cupid’s bow and passing through the dome of the nostril lateral to the anterior nasal spine. Notching of the alar dome is a distinctive feature. The nasal bone may be absent, but the septum is unaffected. Hypertelorism and encephalocele may also be associated. The No. 2 cleft is exceedingly rare and may be a transition between the No. 1 and No. 3 clefts. The Tessier No. 4 cleft passes between the piriform aperture and the infraorbital foramen. It begins lateral to cupid’s bow and the philtrum and then passes lateral to the nasal ala and onto the cheek, terminating in the lower eyelid medial to the punctum. The medial canthal tendon is unaffected. The rare Tessier No. 5 cleft begins behind the canine and extends through the maxillary sinus to the orbital floor. Colobomas of the lateral lower eyelids and clefting of the upper lip medial to the oral commissure are associated. The No. 6 cleft is the incomplete form of Treacher Collins syndrome. This cleft passes inferior and lateral to the oral commissure, toward the angle of the mandible. Colobomas of the lateral lower eyelids occur. The Tessier No. 7 cleft is the most common atypical cleft; it occurs in one of every 3000 births. It has sporadic transmission and highly variable expressivity. The zygomatic arch is typically absent. The No. 8 cleft extends from the lateral commissure of the palpebral fissure to the temporal region and is also associated with colobomas of the lower eyelids. The Tessier No. 9 cleft is merely a supraorbital extension of the No. 5 cleft.

Answer 139

The correct response is Option C. The most likely cause of the findings in this patient is paresis of the ipsilateral superior oblique muscle. Unilateral coronal synostosis is characterized by foreshortening of the orbital roof on the affected side. As a result, some patients have strabismus occurring secondary to relative paresis of the superior oblique muscle. The child may tilt the head and thus elevate the eye to compensate for this problem; covering the affected eye is likely to resolve the head tilt. Muscular torticollis is thought to be caused by abnormalities in the sternocleidomastoid muscle. When palpated, the muscle is firm or has a mass. Resistance to passive correction of the abnormal head position is associated. Although torticollis is unlikely to occur simultaneously with unilateral coronal synostosis, any long-term head tilt, regardless of the cause, may lead to persistent foreshortening of the sternocleidomastoid muscle and ultimately result in secondary torticollis. Abnormalities may be present within the other extraocular muscles but would not cause these findings.

Answer 140

The correct response is Option B. In mandibular distraction osteogenesis, the central region of the distraction gap is referred to as the fibrous zone because it is characterized by fibrous tissue. The transitional zone, which lies adjacent to the fibrous zone, contains fibrous tissue undergoing ossification. This zone is surrounded by the zone of remodeling bone, which is itself surrounded by the zone of mature bone. Chondrocytes are only present in mandibular distraction osteogenesis when there is excessive motion.

Answer 141

The correct response is Option E. Hemifacial microsomia is a condition associated with embryologic abnormalities involving the first and second branchial arches, including a Tessier No. 7 cleft. It is characterized by incomplete development of the external and middle ear, mandible, zygoma, maxilla, temporal bone, parotid gland, tongue, and the muscles of the palate and those that control mastication and facial expression. Affected patients have multiple clinical manifestations such as macrostomia, first branchial cleft sinus, and abnormalities of the cranial nerves. Multiple procedures are necessary to reconstruct the face in patients with hemifacial microsomia. Macrostomia repair should be performed within the first few months after birth, similar to a typical cleft lip repair. Skeletal and soft-tissue repair is indicated at age 5 to 6 years. The mandibular deformities are typically corrected first, followed by the maxillary defects. Correction of soft-tissue deformities is generally delayed until skeletal reconstruction has been completed.

Answer 142

The correct response is Option C. Premature fusion of the metopic suture, or trigonocephaly, is most often associated with abnormalities of the corpus callosum or other neurologic structures in the midline of the skull. Agenesis of the corpus callosum is a common abnormality. Children with trigonocephaly also have a higher than expected incidence of developmental delay. Premature fusion of the coronal, lambdoid, or sagittal sutures is less likely to be associated with underlying neurologic abnormalities. The squamosal suture does not typically fuse prematurely.

Answer 143

The correct response is Option A. Mutations in the genetic locus for fibroblast growth factor receptor 3 (FGFR-3) have been found, in a greater than expected incidence, in both unilateral and bilateral coronal synostoses. Although these craniofacial malformations are thought to occur sporadically, this genetic link may explain the familial occurrence of coronal synostosis in some patients. According to the results of recent studies, the craniofacial dysmorphology was more severe in patients who had the FGFR-3 mutation than in patients who did not carry the mutation, and outcomes of reconstructive surgery were poorer.

Answer 144

The correct response is Option C. Craniofacial microsomia is the most common major craniofacial anomaly and does not demonstrate genetic transmission. Instead, it is believed to be caused by an intrauterine event, such as occlusion of the stapedial artery or development of hematoma. Craniofacial microsomia is far more likely to be unilateral (hemifacial) than bilateral. It manifests as facial paralysis and malformations of the mandibular ramus. Growth of the mandibular condyle is impaired, resulting in inadequate development of the mandible and the craniofacial osseous complex on the affected side. Both Apert and Crouzon syndromes, which are syndromes of acrocephalosyndactyly, are inherited as autosomal dominant conditions. Their genetic mutations have been linked to fibroblast growth factor receptor-2 (FGFR-2). These syndromes are characterized by craniosynostosis, exorbitism, and midface retrusion; however, each is differentiated by its associated extremity findings. Patients with Apert syndrome have severe syndactyly of the middle three digits of the hands and feet, often with a common nail. In Crouzon syndrome, the extremities are normal. Mandibulofacial dysostosis, also known as Treacher Collins syndrome, is an autosomal dominant disorder; its gene has been mapped to chromosome 5q31.3-q33.3. Patients with this condition have facial clefting, an antimongoloid slant to the palpebral fissures, colobomas of the lower eyelids, absence of eyelashes on the medial portion of the lower eyelid, preauricular displacement of hair, malar and mandibular defects, and micrognathia. Nager syndrome is an autosomal recessive disorder that has facial characteristics similar to Treacher Collins syndrome. Affected patients also have hypoplasia of the thumbs, metacarpals, and radius.

Answer 145

The correct response is Option E. These findings are consistent with Treacher Collins syndrome, also known as mandibulofacial dysostosis or Franceschetti-Klein syndrome. The skeletal deformity seen in the CT scan represents bilateral Tessier No. 6, 7, and 8 clefts. Varying hypoplasia of the zygoma is a differentiating feature of this condition. Occlusion is Angle class II, with an anterior open bite. There are numerous characteristic findings in patients with Treacher Collins syndrome. The orbit is oval or egg-shaped and has a superomedial base and inferolaterally oriented axis. A cleft in the inferolateral orbital floor allows for herniation of the orbital contents into the cheek. The inferior orbital rim, lateral orbital wall, and orbital floor are underdeveloped or absent. In contrast, the maxilla protrudes, and the palatal plane is rotated counterclockwise or upward and posteriorly. There is micrognathia and decreased length of the mandibular ramus and body, with broad curvature of the inferior aspect of the mandibular body. The condyle is hypoplastic or absent. The gonial angle is obtuse with antegonial notching. The chin is dysplastic, vertically long, and retrusive. Craniofacial microsomia is typically hemifacial but can occur bilaterally. Hemifacial microsomia is associated with a Tessier No. 7 cleft. There are varying degrees of mandibular hypoplasia. The forehead, orbit, and zygoma may also be hypoplastic. Anophthalmia and microtia occur in the most severe cases. Clefting of the lateral orbit and antegonial notching are not characteristic features. Crouzon syndrome is a syndrome of bilateral coronal synostosis or acrocephalosyndactyly. Affected patients have retrusion of the forehead and superior orbital rim, proptosis caused by shallow orbits, and midface hypoplasia. Occlusion is Angle class III. Goldenhar syndrome is a subset of hemifacial microsomia and is characterized by epibulbar dermoids and anomalies of the scapula and/or spine. Romberg syndrome, or progressive hemifacial atrophy, appears initially as cutaneous pigmentation in otherwise healthy patients but progresses to destruction of the facial soft tissues and skeleton. This is a hemifacial condition that varies in severity.

Answer 146

The correct response is Option C. This 7-year-old boy has findings consistent with velocardiofacial syndrome, or Shprintzen syndrome, an autosomal dominant disorder with variable expressivity. Affected patients characteristically have velopharyngeal insufficiency, developmental delay, and facial abnormalities, including upward slanting of the palpebral fissures and a prominent nose with a broad nasal root and narrow alar base. Velocardiofacial syndrome has been diagnosed in as many as 8% of children with clefts of the secondary palate; however, cleft palate is not always seen in children with velocardiofacial syndrome. Cardiac anomalies, such as aberrant carotid arteries, are present in most patients, and the risk for arterial bleeding is increased during pharyngeal flap repair. Because velocardiofacial syndrome is associated with a deletion on the long arm of chromosome 22q11.2, fluorescent in situ hybridization (FISH) analysis can be used to test any child with suspected velocardiofacial syndrome for chromosomal deletions. Although routine chromosomal karyotyping will not detect the small deletion associated with velocardiofacial syndrome, fluorescent-tagged DNA probes can be used in conjunction with routine cytogenetic examination. On examination with a fluorescent microscope, a child with a normal chromosomal pattern will have two signals (one on each chromosome), whereas only one signal will be present in the child with velocardiofacial syndrome. Serum creatine kinase levels are increased in patients with muscular dystrophy. Although MR angiography will show aberrant blood vessels in patients with velocardiofacial syndrome, it is not diagnostic.

Answer 147

The correct response is Option D. This 3-month-old infant with scaphocephaly should undergo cranial vault remodeling with barrel staving. Scaphocephaly involves premature closure of the sagittal suture. Affected patients have a long, narrow, keel-shaped skull. Frontal and occipital bossing may also be seen. Cranial vault remodeling with a barrel stave technique will help increase the width of the skull. Although sagittal strip craniectomy has been shown to produce improvement in infants with mild forms of sagittal synostosis, it cannot be used alone to widen the skull or correct frontal bossing. Modification of the infant's sleep position and/or use of a molding helmet are only effective in patients with open head sutures and will do nothing to change head shape in this infant with a prematurely closed sagittal suture. These techniques are used instead in infants with deformational (ie, nonsynostotic) plagiocephaly. Monobloc advancement creates osteotomy lines similar to those produced by a Le Fort III procedure but does not osteotomize the nasofrontal junction and frontozygomatic suture. This technique allows for correction of supraorbital and midface deformities simultaneously but is associated with high rates of infection and cerebrospinal fluid leakage. These complications are thought to occur as a result of direct communication between the cranial and nasal cavities. Bilateral frontal craniotomy and bilateral fronto-orbital advancement are effective for correction of unicoronal and bicoronal synostosis.

Answer 148

The correct response is Option C. This neonate has the triad of symptoms associated with Pierre Robin sequence Ñ micrognathia, glossoptosis, and respiratory distress. Although cleft palate is often associated, it does not have to be present in order to make this diagnosis. Pierre Robin sequence is thought to result from forces that prevent the movement of the fetal tongue from between the vertically oriented palatal shelves, resulting in incomplete closure of the palatal shelves and ultimately cleft palate. Appropriate management of neonates with cleft palate is attempted prone positioning to clear the airway and relieve the respiratory distress. The child should be evaluated for any anomalies of the lower airway that may be contributing to this problem. Secondary measures for airway control include tongue-lip adhesion and/or mandibular distraction osteogenesis. Tracheostomy is associated with high rates of morbidity and mortality in neonates and should only be performed if absolutely necessary. Patients with Binder syndrome have hypoplasia of the nasomaxillary complex, with a low-set and flattened nasal tip, a short retracted columella, and absence of the anterior nasal spine. The columella and upper lip appear to be drawn into the floor of the nostrils. Angle class III malocclusion is characteristic. Klippel-Feil anomaly manifests as a short neck, a low posterior hairline, deformities of the cervical spine, facial abnormalities, and hearing loss. Cleft palate is often associated. Velocardiofacial syndrome, or Shprintzen syndrome, is associated with a deletion in chromosome 22q. It the most common syndrome seen in association with cleft lip and palate. Other findings include velopharyngeal dysfunction, facial abnormalities, cardiac anomalies, and absence of the thymus and parathyroid glands. Patients with van der Woude syndrome have cleft lip and palate and lower lip pits resulting from the presence of accessory salivary glands. Anomalies of the extremities and genitalia have been reported.

Answer 149

The correct response is Option D. Plagiocephaly, or abnormal head shape, can be characterized as synostotic (resulting from craniosynostosis) or nonsynostotic (resulting from deformation or molding of the skull). Unilateral coronal and lambdoidal craniosynostosis are the most common causes of synostotic plagiocephaly. In contrast, deformational plagiocephaly, or skull molding, typically results from placing the infant in a fixed supine position for sleep. Posterior deformational plagiocephaly now occurs in one out of 70 infants. The increase in the incidence of this condition is due to recent recommendations by the American Academy of Pediatrics that infants be placed in the supine position during sleep to decrease the incidence of sudden infant death syndrome (SIDS). Most infants with posterior deformational plagiocephaly have unilateral findings, including flattening of the occiput associated with anterior displacement of the ipsilateral ear. In severe forms of deformational plagiocephaly, there may be anterior displacement of the ipsilateral forehead and zygoma and widening of the ipsilateral palpebral fissure, resulting in a parallelogram-shaped cranium. If the condition is diagnosed early, treatment involves repeatedly repositioning the child out of the "flat spot." However, cranial molding helmets may be required for those infants who have severe deformational plagiocephaly, who are resistant to repositioning, or in whom the condition is diagnosed late. Infants with bilateral posterior deformational plagiocephaly have flattening of the occiput, bulging of the mastoid bilaterally, and bossing of the biparietal eminence. The suture is not ridged, and the ears are essentially symmetric. Lambdoidal craniosynostosis is characterized by ipsilateral flattening of the occiput in combination with ridging of the fused lambdoid suture. There is compensatory bulging of the contralateral parietal skull and bulging of the ipsilateral mastoid skull, resulting in an inferior, not anterior, displacement of the ipsilateral ear. This gives the cranium a trapezoid-like shape. Appropriate management is craniofacial surgery with cranial vault remodeling at approximately 6 to 9 months of age.

Answer 150

The correct response for Item 49 is Option A and for Item 50 is Option C. The infant has findings consistent with Apert syndrome, which is characterized by brachycephaly, hypertelorism with flattening of the face, strabismus, palsy of the ocular muscles, an antimongoloid slant of the palpebral fissures, and maxillary hypoplasia. Affected patients typically have a prominent bregmatic eminence or "bump." There is bony syndactyly with complete fusion of the four fingers; the thumb is unaffected. Cutaneous syndactyly of the toes may be simple or complex. Although occurrence is typically sporadic, new mutations with autosomal dominant inheritance have been detected. The affected family most likely has Crouzon syndrome, characterized by exorbitism, retromaxillism, inframaxillism, and paradoxical retrogenia. Inheritance is autosomal dominant, and occurrence is both sporadic and familial. Affected patients typically have recession of the frontal bone and supraorbital rim, midface retrusion, exorbitism with proptosis, and hypoplasia of the infraorbital rim. Hypertelorism, a bregmatic "bump," and abnormalities of the hands are not characteristic. Patients with Carpenter syndrome, or acrocephalopolysyndactyly, have craniosynostosis, shortened fingers, soft-tissue syndactyly, preaxial polydactyly, congenital cardiac disease, hypogenitalism, obesity, and umbilical herniation. The inheritance pattern of this syndrome is autosomal recessive. Nager syndrome, or acrofacial dysostosis, is an autosomal recessive condition. Affected patients typically have short stature, cleft palate, and hypoplasia of the orbits, zygoma, maxilla, and mandible. Preaxial reduction defects occur in the upper, and sometimes lower, limbs. Hypoplasia or agenesis of the thumbs, radius, and one or more metacarpals is also characteristic. Pfeiffer syndrome is an autosomal dominant disorder characterized by variable forms of craniosynostosis, acrocephalosyndactyly with broad thumbs and great toes, and severe midface hypoplasia.

Answer 151

The correct response is Option E. In this 15-year-old girl with Apert syndrome who requires 25 mm of midface advancement, the most appropriate management is Le Fort III osteotomy with distraction osteogenesis. Although the forehead and superior orbital bar are positioned appropriately, there is deficiency and retrusion of the midface and malocclusion. Le Fort III osteotomy will correct the midface deficiency and the skeletal portion of the malocclusion. Distraction osteogenesis is preferred over bone grafting for advancement of more than 10 mm because it produces a more stable result that is less prone to relapse and allows for more gradual stretching of the soft-tissue envelope. Distraction osteogenesis is also associated with a lower rate of morbidity and less need for secondary midface procedures when compared with bone grafting. Monobloc advancement will correct the midface retrusion and malocclusion but will also advance the forehead. Le Fort I osteotomy and advancement with either bone grafting or distraction osteogenesis will not correct the midface deficiency.

Answer 152

The correct response is Option C. If the dorsal hump is resected without adequately moving the medial upper lateral cartilage and mucosa away from the septum, a patient undergoing rhinoplasty is at risk for injury and destabilization of the internal nasal valve with the potential for subsequent collapse. The internal nasal valve angle typically measures 10 to 15 degrees. If the internal nasal valve angle is less than 10 degrees, spreader grafts should be inserted between the upper lateral cartilage and septum. An alar base flap is appropriate for correction of vestibular stenosis accompanied by malpositioning of the alar base. This deformity typically results from excessive resection of the alar base and often occurs in patients undergoing secondary rhinoplasty procedures. Patterned composite grafts of auricular cartilage are used in patients who have external nasal valve deformities that involve cartilage and vestibular skin. Lateral crural strut grafts are indicated for correction of alar rim collapse and concavity or malpositioning of the lateral crura. Because preservation of cartilage is an important consideration in any patient undergoing a secondary procedure, submucous resection should only be performed in patients who have airway obstruction caused by septal deviation.

Answer 153

The correct response is Option E. The Tessier classification of craniofacial clefting was first proposed in 1973. This system integrates both tissue findings and underlying skeletal deformities; embryopathogenesis is not considered. Clefts No. 0 through 7 are located in the lower half of the face, while Nos. 9 through 14 occur in the upper hemisphere. According to the Tessier system, the No. 7 cleft is most common. This sporadic cleft, which has variable expressivity, is most likely to be seen in male neonates and occurs in one of every 3000 neonates. Macrostomia and absence of the zygomatic arch are typically associated. Tessier No. 3 cleft involves the orbit. The cleft through the lip is located in the same position as a midline unilateral cleft lip. In the nasal area, the cleft changes its course and undermines the ala. The medial canthus is displaced inferiorly. Colobomas of the lower eyelid are medial to the punctum. The osseous component passes through the alveolus between the lateral incisor and canine. The cleft disrupts the lateral border of the piriform aperture. Tessier No. 4 cleft passes lateral to the cupid's bow and philtrum. In most affected patients, the cleft is located lateral to the nasolacrimal canal and sac. Like the Tessier No. 3 cleft, the osseous component is located between the lateral incisor and canine. However, unlike the No. 3 cleft, the No. 4 cleft spares the piriform aperture and courses medial to the intraorbital foramen. Tessier No. 6 cleft involves an incomplete form of Treacher Collins syndrome. The cleft is directed inferior and lateral to the oral commissure toward the angle of the mandible. Colobomas of the lateral lower eyelids are seen.

Answer 154

The correct response is Option D. This 25-year-old woman has Romberg's hemifacial atrophy characterized by progressive unilateral loss of facial soft tissue. The underlying skeleton is also affected in patients with severe forms of the disease. Surgery should be delayed until the condition becomes stabilized, which is indicated by the cessation of facial atrophy. When this has occurred, a microvascular parascapular flap can be deepithelialized and customized to fit the dimensions of the defect, and then transferred and buried subcutaneously. Skeletal augmentation with either bone graft or alloplast is not appropriate because the bones of the face are not affected. The serratus anterior flap would only atrophy over time, and the superficial temporal fascia flap would not provide the necessary volume.

Answer 155

The correct response is Option D. Although the mechanisms of action resulting in premature fusion of cranial sutures, or craniosynostosis, are unknown, experimental animal studies have shown that transforming growth factor-beta (TGF-B) plays a role in the fusion of posterior frontal sutures. According to immunolocalization techniques, certain isoforms of TGF-B are expressed during fusion of posterior frontal sutures in rat and mouse models; increased immunoreactivity of isoforms of both TGF-B and insulin-like growth factor (IGF) has also been shown to occur during premature fusion of the sagittal, coronal, and lambdoid sutures in humans. Qualitative analysis of TGF-B protein levels in organ culture models has also demonstrated increased levels of TGF-B during the period of active suture fusion. Although basic fibroblast growth factor (b-FGF) has also been implicated in the process of cranial suture fusion, epidermal growth factor (EGF) has not been shown to be associated with suture fusion. Interleukin-6 (IL-6), prostaglandin-E2 (PGE2), and tumor necrosis factor-alpha (TNF-B) have been shown to mediate inflammatory responses but not to affect cranial suture fusion.

Answer 156

The correct response is Option D. This child has findings most consistent with Nager syndrome, or acrofacial dysostosis, an autosomal recessive disorder characterized by hypoplasia of the orbits, zygoma, maxilla, mandible, and soft palate. Although the findings are similar to Treacher Collins syndrome (an autosomal dominant disorder), patients with Nager syndrome can also exhibit preaxial limb anomalies and mental retardation. Auricular defects may be present. Patients with bilateral craniofacial microsomia typically have hypoplasia of the mandibular ramus and varying degrees of auricular hypoplasia. Patients with Goldenhar syndrome have hemifacial microsomia and epibulbar dermoids. Klippel-Feil syndrome is characterized by significant fusion of the cervical spine with varying involvement of the thoracic and lumbar spinal regions. Affected patients have limited cervical motion and a low posterior hairline.

Answer 157

The correct response is Option D. The fontanelles are nonossified membranous intervals in the skull located at the angles of the parietal bones in infants. The anterior and posterior fontanelles are located in the midline, and the anterolateral (sphenoid) and posterolateral (mastoid) fontanelles are found laterally. The anterior fontanelle is the largest, measuring approximately 4 cm anteroposteriorly and 2.5 cm transversely. It is located at the junction of the sagittal, coronal, and frontal sutures. The posterior fontanelle is triangular in shape and is found at the junction of the sagittal and lambdoid sutures. The sphenoid and mastoid fontanelles are irregular, small fontanelles that correspond to the sphenoid and mastoid angles of the parietal bones, respectively. Although the posterior fontanelle typically closes by age 2 months, the anterior fontanelle does not completely close until between the ages of 18 and 24 months.

Answer 158

The correct response is Option C. Hemifacial microsomia is the most common craniofacial anomaly; affected patients have unilateral malformations of the mandibular ramus and facial paralysis. Mandibular growth is impaired, leading to inadequate development of the mandibular and osseous complex on the involved side. Bilateral craniofacial microsomia is less frequent than hemifacial microsomia. Goldenhar syndrome, a variant of hemifacial microsomia, is characterized by vertebral or hemivertebral anomalies, lipodermoids, and epibulbar dermoids. The facial abnormalities resemble a Tessier No. 7 cleft. This condition may be bilateral. Nager syndrome is an autosomal recessive disorder that manifests as hypoplasia of the orbits, zygoma, maxilla, mandible, and soft palate, as well as hypoplasia or agenesis of the radius, thumbs, and metacarpals. Auricular defects may also be associated. Treacher Collins syndrome is an autosomal dominant disorder that involves hypoplasia of the zygoma, maxilla, and mandible. The palpebral fissures have an antimongoloid slant and the lashes of the medial lower eyelids are absent. Colobomas of the lower eyelids and malar defects are also associated. The preauricular hair may be displaced, and micrognathia may be present. Findings are similar to the Tessier No. 6, No. 7, and No. 8 clefts.

Answer 159

The correct response is Option D. Scaphocephaly is just one form of craniosynostosis, or varying deformities of the cranial vault resulting from restrictions in development. Detectable craniosynostotic abnormalities occur in one of approximately 1800 neonates. The coronal, lambdoid, metopic, and sagittal sutures are primarily involved; minor sutures can include the frontonasal, frontosphenoidal, and temporosquamosal. Mental retardation is often seen in patients with multiple synostotic sutures; this occurs as a result of prolonged restriction of brain growth and cranial vault development secondary to fusion of the overlying sutures. Scaphocephaly is associated with synostosis of the sagittal suture. Affected patients have an elongated, narrow cranial vault. In contrast, patients with bilateral coronal synostosis have brachycephaly, in which the frontal portion of the skull is wide and flat and the cranium is shortened anteroposteriorly. Lambdoid suture synostosis is also known as occipital or posterior plagiocephaly. This condition, characterized by an oblique posterior flattening, is rarely seen congenitally and more often results from childbirth or prolonged head positioning, such as during sleep. Infants with metopic suture synostosis, or trigonocephaly, have a triangularly shaped forehead with decreased bitemporal distance. Unilateral coronal synostosis, or frontal plagiocephaly, involves oblique frontal flattening of the skull.

Answer 160

The correct response is Option A. The patient described has Apert syndrome. This autosomal dominant syndrome is characterized by bicoronal craniosynostosis that leads to turribrachycephaly, mid face hypoplasia, and complex hand and feet syndactyly. Patients with Crouzon syndrome, an autosomal dominant disorder, typically have craniosynostosis involving the coronal, sagittal, and lambdoid sutures, as well as turribrachycephaly. Other findings include mid face hypoplasia, exorbitism, and proptosis. The extremities are normal. Goldenhar syndrome, or oculoauriculovertebral dysplasia, involves asymmetry of the hard and soft tissues of the face. This condition is most commonly unilateral but may be seen bilaterally in some patients. Manifestations of this syndrome include hypoplasia involving the mandible and underlying soft tissues of the face, epibulbar dermoids, and varied degrees of microtia on the affected side. Most patients have associated vertebral abnormalities. Nager syndrome, or acrofacial dysostosis, is an autosomal recessive disorder characterized by craniofacial and upper extremity abnormalities. Patients with Nager syndrome have hypoplasia of the orbits, zygoma, maxilla, mandible, and soft palate. Auricular defects may also be present. Hypoplasia or agenesis occurs in the radius, thumbs, and metacarpals. Some patients may have radioulnar synostosis and elbow joint deformities. Patients with Treacher Collins syndrome, or mandibular dysostosis, have hypoplasia of the zygoma, maxilla, and mandible, downward slanting of the palpebral fissures, colobomas of the lower eyelids, absence of eyelashes, and auricular defects.

Answer 161

The correct response is Option A. This 11-year-old girl has Binder's syndrome, which is characterized by localized nasomaxillary hypoplasia resulting in a flat nasal bridge and a short, retracted columella. The columella and upper lip are depressed into the floor of the nose, and the anterior nasal spine is absent. Angle class III malocclusion is usually present. Goldenhar's syndrome, or oculoauriculovertebral dysplasia, involves asymmetry of the hard and soft tissues of the face. This condition is most often unilateral but may be seen bilaterally in some patients. Manifestations of this syndrome include hypoplasia involving the mandible and underlying soft tissues of the face, epibulbar dermoids, and varied degrees of microtia on the affected side. Most patients have associated vertebral abnormalities. Nager's syndrome, or acrofacial dysostosis, is an autosomal recessive disorder characterized by craniofacial and upper extremity abnormalities. Patients with Nager syndrome have hypoplasia of the orbits, zygoma, maxilla, mandible, and soft palate. Auricular defects may also be present. Hypoplasia or agenesis occurs in the radius, thumbs, and metacarpals. Some patients may have radioulnar synostosis and elbow joint deformities. Patients with Treacher Collins syndrome, or mandibular dysostosis, have hypoplasia of the zygoma, maxilla, and mandible, downward slanting of the palpebral fissures, colobomas of the lower eyelids, absence of eyelashes, and auricular defects. Velocardiofacial syndrome is characterized by overt or submucous clefting of the palate and cardiac abnormalities. Most patients have abnormal facial features, including narrow palpebral fissures and a prominent nose with a square nasal root and narrow alar base. The anterior nasal spine is present.

Answer 162

The correct response is Option C. Patients with Apert syndrome have symmetric syndactyly of the hands and feet; other findings include synostosis of multiple sutures, exorbitism, and midface hypoplasia. In Carpenter syndrome, partial digital syndactyly and preaxial polysyndactyly of the feet are combined with suture synostosis. Nager syndrome is an autosomal recessive disorder in which the extremity anomalies range from hypoplasia to agenesis of the radius, thumbs, and metacarpals. Hypoplasia of the orbits, zygoma, maxilla, and mandible and auricular defects are also found. Patients with Pfeiffer syndrome have broad thumbs and halluces in addition to the suture synostosis. Partial syndactyly of the second and third digits has also been identified. Crouzon syndrome is characterized by craniosynostosis, exorbitism, and midface retrusion; the extremities are unaffected.

Answer 163

The correct response is Option C. In this patient who has long face syndrome resulting from vertical maxillary hyperplasia, the most appropriate management is Le Fort I osteotomy with superior repositioning of the maxilla combined with genioplasty. Long face syndrome is characterized by excessive length of the lower third of the face. Affected patients have lip incompetence with the lips in repose, a large interlabial gap, and excessive maxillary incisor show with the upper lip at rest; normal maxillary incisor show is quantified as 2 mm to 3 mm. In addition, the nasolabial angle is obtuse and the alar bases are narrow and constricted. Occlusion is often Angle class II with an anterior open bite. The chin is often vertically long and somewhat retruded. Le Fort I osteotomy with superior repositioning of the maxilla (intrusion) should be performed for management of this patient's vertical maxillary excess. If autorotation alone does not correct the chin positioning, genioplasty can be performed as well. Sagittal split osteotomy with mandibular setback may also be considered in order to effectively treat the malocclusion without significantly repositioning the maxilla. Anterior segmental osteotomy with intrusion will treat the transverse maxillary arch deformities but not the vertical maxillary excess. Le Fort I osteotomy with inferior repositioning will only further increase lower facial height. As mentioned above, sagittal split osteotomy with mandibular advancement and genioplasty can be used in conjunction with Le Fort I osteotomy in this patient to correct the Angle class II malocclusion and/or any facial asymmetry, but will not address all of this patient's facial concerns if performed alone. Sliding genioplasty will treat the weak chin only, and not the maxillary excess, nose and lip findings, or malocclusion.

Answer 164

The correct response is Option D. The Tessier classification of craniofacial clefting was first proposed in 1973. This system integrates both tissue findings and underlying skeletal deformities; embryopathogenesis is not considered. According to the Tessier system, the No. 7 cleft manifests as macrostomia and absence of the zygomatic arch. This common sporadic cleft, which has variable expressivity, is more likely to be seen in male neonates and occurs in one of every 3000 births. The Tessier No. 1 cleft lies just lateral to the midline, beginning at the cupid's bow and passing through the dome of the nostril lateral to the anterior nasal spine. Notching of the alar dome is a distinctive feature. The nasal bone may be absent, but the septum is unaffected. Hypertelorism and encephalocele may also be associated. The Tessier No. 3 cleft involves the orbit. It begins in the alveolus between the lateral incisor and canine and extends through the maxilla into the lacrimal bone. This cleft is commonly referred to as a naso-ocular cleft because the inferomedial wall of the orbit is absent. Associated soft-tissue deformities include shortening of the nose, colobomas of the nasal alae and the lower eyelids medial to the punctum, obstruction of the nasolacrimal duct, malformation of the lower canaliculus, and hypoplasia of the medial canthal tendon. With the rare Tessier No. 5 cleft, the cleft moves laterally and becomes oblique. It begins beneath the canine and extends through the maxillary sinus to the orbital floor. Colobomas of the lateral lower eyelids and clefting of the upper lip medial to the oral commissure are associated. The Tessier No. 9 cleft is merely a supraorbital extension of the Tessier No. 5 cleft.

Answer 165

The correct response is Option B. Localized scleroderma (Parry-Romberg syndrome) leads to atrophy/loss of subcutaneous fat in the affected area. For severe disfigurement, surgical treatment with free tissue transfer can yield excellent results. This patients disease is of a less severe morphology and fat grafting is the most appropriate option. This is a static defect and therefore botox injection, which would affect dynamic defects, has no role in treatment. Liposuction of the unaffected side, as well as laser therapy, would not be appropriate treatment. Follow-up photographs after fat graft reconstruction at age 18 years are shown.

Answer 166

The correct response is Option E. This patient presents with posterior positional plagiocephaly, which is commonly seen in male patients, first-born patients, multiple births, and prolonged immobilization. The first step would be to actively observe, which means educating the caregivers on repositioning and encouraging tummy time. Patients benefit from a physical therapy evaluation and possible treatment of torticollis. If there is no improvement, patients should be evaluated for helmet orthosis. There is no need for imaging or surgical consultation or intervention. Although this patient may eventually require a helmet orthosis, the FDA approval for helmeting orthosis is ages 3 to 18 months.

Answer 167

The correct response is Option D. The treatment of Pierre Robin sequence (retrognathia, glossoptosis, and airway obstruction) has been significantly improved with distraction osteogenesis. Distraction osteogenesis is a technique to generate new bone by manipulating surgically osteotomized bone with a device to control the rate and vector of the movement. Beyond the osteotomy, there are three phases to distraction osteogenesis: latency, activation (distraction), and consolidation. The latency phase is a time period that is required for callus formation. The latency period should be short enough to avoid calcification and premature union, but long enough to allow for adequate callus formation. The widely accepted duration of latency is less than 1 week; however, for neonates the range is often 1 day. Two-week and 4-week latency phases are too long and increase risk for premature union. The activation phase is the expansion of the mechanical device by serial axial screw movements to lengthen the formed callus before calcification. The rate and frequency of the activation is important for successful distraction. Increased rate/frequency can result in ischemia at the cellular level and lead to malunion/nonunion. Decreased rate/frequency can result in premature ossification. The frequency is typically two to four times a day with a 1- to 1.5-mm activation rate per day. For a 25-mm movement, the activation phase will take 3 weeks. Reaching 25-mm movement in 1 week will require a 3+-mm activation rate per day and will likely result in nonunion. The consolidation phase is a long period of immobilization to allow the expanded callus to remodel into lamellar bone, avoiding a cartilaginous intermediate. The time range for consolidation is variable depending on the location of the distraction site and rate of bone metabolism; however, the average is 8 weeks. It is recommended that the consolidation phase is kept twice as long as the activation phase. A 2-week consolidation would be too abbreviated.

Answer 168

The correct response is Option C. Multisuture synostosis increases the risk for intracranial pressure and more severe skull deformity. Different institutions follow different successful protocols to manage cranial vault expansion to treat bicoronal synostosis. Strip craniectomy, fronto-orbital advancement, and posterior cranial vault expansion have all been described as first procedures. Posterior cranial vault expansion has been shown to allow for more expansion than fronto-orbital advancement. When a patient has syndromic turribrachycephaly, posterior cranial vault expansion with distraction is performed to garner more expansion as a first procedure. The forehead appearance and shape is best corrected with fronto-orbital advancement instead of posterior cranial vault expansion. Sagittal synostosis may be addressed with strip craniectomy and helmet treatment at an early age or with an open modified pi procedure at an older age in infancy. Posterior expansion would increase dolichocephaly and would not be indicated. Trigonocephaly is best addressed with an anterior procedure such as fronto-orbital advancement. A unilateral lambdoid suture could be addressed with suturectomy and helmet, if identified early, or switch cranioplasty posteriorly. A bilateral posterior distraction would be less likely to improve shape.

Answer 169

The correct response is Option A. Autologous bone is the most appropriate material for cranial reconstruction in a growing child. There are many advantages over alloplastic materials including decreased cost, lower infection risk, ability to grow along with the cranium, and greater long-term stability due to osseointegration. Most studies show that the risk for reoperation using autologous bone in children is very low, especially in very young children (like the one in this scenario) who have excellent bone-healing capabilities. While implant technology has improved, none of the synthetic materials listed (polyetheretherketone, methyl methacrylate, or titanium mesh) osseointegrate or grow along with the surrounding cranium. Thus, implant stability is only as good as the peripheral fixation (small plates and screws), and in very young children, continued cranial growth can and often does lead to gradual implant destabilization and the need to replace the implant. The revision rate with demineralized bone and resorbable mesh reconstruction is unacceptably high.

Answer 170

The correct response is Option E. Ophthalmologic pathology is often found in patients with craniofacial disorders. Of the findings listed, strabismus is most associated with nonsyndromic unicoronal craniosynostosis. Saethre-Chotzen syndrome can result in unicoronal craniosynostosis or bicoronal synostosis and is associated with lid ptosis. Exposure keratopathy can occur in patients with severe syndromic craniosynostosis (Apert, Crouzon, and Pfeiffer syndromes), most often in patients with bicoronal synostosis and mid face hypoplasia (ie, exorbitism). Cataract and coloboma can occur with many craniofacial syndromes, though they are not closely associated with nonsyndromic craniosynostosis.

Answer 171

The correct response is Option D. The succedaneous teeth are the permanent teeth that replace the deciduous teeth. Permanent molars are not succedaneous teeth because they do not replace any primary teeth. Succedaneous teeth originate from successional laminae, whereas permanent molars originate from the general dental laminae. The most commonly injured teeth with mandible distraction using an inverted L osteotomy are the first and second molars due to their proximity to the osteotomy. The first molar bell caps are typically visible at birth. Impacted and ankylosed teeth typically occur later in development after the eruption of adjacent teeth that prevent or obstruct eruption of other teeth.

Answer 172

The correct response is Option E. Limbal dermoids are benign tumors that influence vision and can cause visual abnormalities. They are congenital. Dermoids of the limbus are also called epibulbar dermoids and can lead to the development of astigmatism, encroachment on the visual axis, and fatty component infiltration into the cornea. These dermoids are overgrowths of epidermal appendages, skin, lacrimal glands, fat, connective tissues, sweat glands, and neurologic tissues. They are located partly over the cornea and partly over the sclera at the limbus. Clinically, limbal dermoids present as dome-shaped with a keratinized surface. They may have hair follicles and cilia. Associated ocular abnormalities may include eyelid coloboma, lacrimal differences, and scleral and corneal differences. These dermoids may be associated with other facial differences or differences along the oculo-auriculo-vertebral spectrum or craniofacial microsomia. Coloboma of the iris derives from failed or incomplete closure of the embryonic fissure during development. Eye colobomas are located in the inferior nasal quadrant. The coloboma will appear as a notch in the iris. The iris will not be round but will be irregularly shaped. Congenital ptosis is characterized by droopy upper eyelids since birth or shortly after birth. It can be unilateral or bilateral. A chronic corneal abrasion can also look like a white spot on the cornea and can lead to blindness if not treated. Chronic abrasions and ulcers may be from infectious keratitis or insensate cornea. They are generally not raised and would not be lateral to the limbus as in the case of the dermoid. Circumscribed iris melanoma is not a congenital lesion.

Answer 173

The correct response is Option E. The condition described is Treacher Collins syndrome. The classical clinical features include bilateral mid face hypoplasia, downward slanting palpebral fissures, lower eyelid coloboma, and micro/retrognathia. Patients most commonly have mutations in TCOF1, but less common mutations in POLR1C and POLR1D have also been described. While this condition can be associated with Pierre Robin sequence, the constellation of micro- or retrognathia, glossoptosis, and respiratory distress, the latter two findings are not part of this scenario. Craniofacial microsomia, also termed hemifacial microsomia, can occur bilaterally but is rarely symmetrical and not associated with mutations in TCOF1. Saethre-Chotzen syndrome is a craniofacial syndrome associated with mutations in TWIST1. Patients typically present with bilateral or unilateral coronal suture fusion and eyelid ptosis, but microtia or micrognathia are not part of the syndrome. Kabuki syndrome manifests with high arched eyebrows, long palpebral fissures, and growth and developmental delays.

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Craniofacial 01-22, 24 Flashcards

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