Craniofacial Anomalies Flashcards
In the United States, occurrence of encephaloceles is most common in which of the following anatomic regions?
(A) Frontoethmoidal
(B) Occipital
(C) Parietal
(D) Sphenoidal
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.
Which of the following facial anomalies is most common in patients with craniofacial microsomia?
(A) Facial nerve palsy
(B) Mandibular hypoplasia
(C) Maxillary hypoplasia
(D) Microtia
(E) Parotid gland hypoplasia
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.
A 4-month-old female infant is brought to the office for evaluation. A photograph is shown. Which of the following additional abnormalities are most likely associated with this patient’s condition?
A) Glossoptosis and cleft palate
B) Hydronephrosis of the kidneys and hearing loss
C) Lacrimal duct obstruction and coloboma of the eyelids
D) Posterior fossa abnormalities and stenotic cerebral arteries
E) Supernumerary teeth and duplicate maxilla
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.
During orbital dissection in preparation for orbital box osteotomy, which of the following anatomical landmarks serves as the starting point for lateral wall osteotomy?
A) Anterior ethmoid foramen
B) Dacryon
C) Inferior orbital fissure
D) Optic foramen
E) Superior orbital fissure
The correct response is Option C.
The inferior orbital fissure serves as the starting and ending point of the orbital box osteotomy since only temporal fat is within this fissure. No critical nerves or blood vessels are in this fissure more peripherally. Major structures, such as the infraorbital nerve, travel for a short distance across the apex of the infraorbital fissure as it exits the foramen rotundum and enters the infraorbital canal. Dacryon marks the posterior border of the lacrimal sac. The optic nerve is within the optic foramen, and cranial nerves III, IV, and VI travel in the superior orbital fissure.
Patients with hemifacial microsomia have an increased incidence of which of the following?
A) Craniosynostosis
B) Glossoptosis
C) Hemihypertrophy
D) Microstomia
E) Velopharyngeal insufficiency
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.
An otherwise healthy 5-year-old girl has a yellow, cystic mass on the left sclera, a left preauricular branchial cleft remnant, elevation of the left oral commissure, and soft-tissue deficiency of the left face. It is most appropriate to order which of the following tests to assess for significant comorbidities?
A) Echocardiography
B) Fluorescence in situ hybridization of the branchial cleft remnant
C) Funduscopic examination
D) MRI of the brain
E) Plain x-ray studies of the hands
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.
A 3-month-old infant presents with flattening of the left forehead, and asymmetry of the orbits and face. He has early evidence of right-sided astigmatism and ocular torticollis. A CT scan is shown. The parents are considering two options: endoscopic suturectomy and helmet therapy at age 3 months or frontoorbital advancement (FOA) at age 9 months. Compared with endoscopic suturectomy and helmet therapy, FOA is more likely to result in which of the following surgical outcomes?
A) Greater need for revision
B) Greater postoperative facial symmetry
C) Less operative morbidity
D) Lower overall cost
E) More severe strabismus
The correct response is Option E.
Surgical intervention is recommended for most patients with craniosynostosis due to the variable risk for increased intracranial pressure (ICP), localized cerebral compression, and developmental delay. Traditional treatment techniques such as fronto-orbital advancement (FOA) and total cranial vault remodeling are still widely used, but minimally invasive options such as endoscopic suturectomy and postoperative helmet therapy (ES + HT), spring-mediated distraction, and conventional distraction have become more commonplace. While each technique has its ardent supporters, there is a growing number of studies that compare the clinical outcomes of each technique. ES + HT is most effective when performed under 4 months of age because the correction depends solely on cranial expansion, while spring-mediated distraction is typically done in older infants (4 to 8 months of age). Cranial remodeling has no strict age limit, but many surgeons defer treatment until 7 to 10 months to decrease the risk associated with anesthesia and recurrence of the malformation. Despite these concerns, there are some data that support early cranial expansion (<6 months of age) to optimize neurocognitive outcomes. Compared with FOA, endoscopic and spring-mediated distraction techniques are less costly, less morbid, and have similar revision. The patient has left unilateral coronal craniosynostosis (UCS), which manifests as ipsilateral forehead and brow retrusion and shortening of the ipsilateral hemi-cranium, with orbital and facial asymmetry. Open cranial vault procedures do not directly correct the facial symmetry and at least two investigations show better facial asymmetry is achieved with early, minimally invasive approaches. The orbital asymmetry results in strabismus (contralateral head tilting termed ocular torticollis) and contralateral astigmatism in the majority of patients. Several studies confirm significantly better ophthalmologic outcomes following early endoscopic suturectomy for UCS versus FOA performed at an older age.
A 28-year-old man is evaluated because of the facial deformity shown in the photograph. Three years ago, he underwent resection of an infratemporal malignancy and intraoperative alloplastic reconstruction of bony defects. Postoperatively, he underwent extensive radiation therapy. Which of the following is the most appropriate method for restoring facial volume in this patient?
A) Custom-fabricated alloplastic implantation
B) Dermal fat grafting
C) Implantation of layered acellular dermis
D) Parascapular free flap reconstruction
E) Serial fat grafting
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.
Which of the following findings is commonly caused by nonsyndromic unicoronal synostosis?
(A) Anterior displacement of the ipsilateral ear
(B) Deviation of the root of the nose to the contralateral side
(C) Flattening of the ipsilateral aspect of the occiput
(D) Occlusal cant up on the ipsilateral side
(E) Recession of the contralateral forehead
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.
A 2-month-old male infant is brought to the office because of mid face hypoplasia, craniosynostosis, and bilateral hand and foot anomalies. A photograph of the left foot is shown. This patient most likely has which of the following syndromes?
A) Apert
B) Crouzon
C) Goldenhar
D) Nager
E) Treacher Collins
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.
A 14-year-old girl is brought to the office by her parents for consultation regarding facial asymmetry. On the basis of the photograph shown, which of the following is the most likely diagnosis?
(A) Congenital cranial (VII) nerve palsy
(B) Craniofacial microsomia
(C) Goldenhar syndrome
(D) Romberg disease
(E) Unilateral coronal craniosynostosis
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.
A 12-year-old boy is evaluated for a vertical furrow near the midline of his face from the hairline to the eyebrows. Each of the listed clinical findings can be seen in hemifacial atrophy EXCEPT:
A) Atrophy of the tongue
B) Change in facial sensation
C) Malar hypoplasia
D) Malocclusion
E) Mandible hypoplasia
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.
A 6-month-old female infant is brought to the office because of a wide, tall forehead, low-set ears, and supraorbital rim retrusion. CT scan demonstrates bicoronal synostosis. Genetic testing is positive for TWIST mutation. Which of the following additional findings is/are characteristic of this patient’s disorder?
a Cervical spine anomalies
b. Complete cartilaginous tracheal rings
c. Eyelid ptosis
d. Gastroschisis
e. Thumb duplication
The correct response is Option C.
The patient described has Saethre-Chotzen syndrome as confirmed by bilateral coronal synostosis, low-set ears, and mutations of the TWIST gene. In addition to these findings, patients with Saethre-Chotzen syndrome often have eyelid ptosis, which is a distinguishing feature from other forms of syndromic craniosynostosis. It is important to recognize ptosis in infants and young children in order to maintain adequate visual pathway development. Thumb duplication is not found in patients with Saethre-Chotzen syndrome. Tracheal anomalies are associated with Pfeiffer syndrome. Cervical spine anomalies can be found in both Apert and Pfeiffer syndromes. Gastroschisis is not associated with syndromic craniosynostosis.
Reference(s)
- Jadico SK, Huebner A, McDonald-McGinn DM, et al. Ocular phenotype correlations in patients with TWIST versus FGFR3 genetic mutations. J AAPOS. 2006 Oct;10(5):435-44.
- Tahiri Y, Bastidas N, McDonald-McGinn DM, et al. New Pattern of Sutural Synostosis Associated With TWIST Gene Mutation and Saethre-Chotzen Syndrome: Peace Sign Synostosis. Bartlett SP. J Craniofac Surg. 2015 Jul;26(5):1564-7.
- Taylor JA, Bartlett SP. What’s New in Syndromic Craniosynostosis Surgery? Plast Reconstr Surg. 2017 Jul;140(1):82e-93e.
According to Tessier’s classification, which of the following is the most common craniofacial cleft?
(A) No. 0
(B) No. 3
(C) No. 4
(D) No. 6
(E) No. 7
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.
A 25-year-old woman comes to the office because of a 5-year history of stable facial asymmetry. Physical examination shows fullness of the right mandibular angle; no facial tenderness, masses, or lymphadenopathy is noted. Maxillofacial CT scan shows enlargement of the right masseter muscle compared with the left. Which of the following is the most appropriate first-line treatment for this problem?
A) Fabrication of a bite guard to treat bruxism
B) Injection of botulinum toxin type A into the right masseter muscle
C) Open subtotal myectomy of the right masseter muscle
D) Placement of a left mandibular angle prosthesis
E) Referral to oncology to rule out systemic amyloidosis
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.
A 2-day-old male newborn is evaluated for the skull findings shown in the CT scan. Which of the following best describes the anomaly in this patient?
A) Brachycephaly
B) Kleeblattschädel deformity
C) Posterior plagiocephaly
D) Scaphocephaly
E) Trigonocephaly
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.
A 6-year-old boy is brought to the office by his parents for consultation regarding bilateral congenital facial palsy and syndactyly of the hands. He underwent surgical correction of strabismus five years ago. Which of the following conditions is the most likely cause of this patient’s symptoms?
A) Apert syndrome
B) Bell palsy
C) Goldenhar syndrome
D) Hemifacial microsomia
E) Möbius syndrome
Correct answer 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.
A 3-month-old male infant is brought to the office by his parents for evaluation of skull asymmetry that has worsened since birth. Birth history includes prolonged labor that required cesarean delivery. Physical examination shows flattening of the right posterior occiput with ipsilateral forehead bossing. From a superior view, the right ear is 1 cm more anterior than the left ear, and the anterior fontanelle is open without any bulging. The child’s head tilts to the right and has decreased range of motion when looking to the left. The left side of his neck feels tighter and more rigid compared with the right side. Which of the following is the most appropriate initial management of this child?
A) Cerebral palsy evaluation
A) Occupational therapy of the neck
A) Posterior cranial vault expansion
D) Passive molding helmet therapy
E) Sternocleidomastoid muscle release
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.
An 8-month-old female infant is brought to the office by her parents. Physical examination shows a wedge-shaped skull with a keel formation on the forehead, close-set eyes, and hollowness of the temporal fossa on both sides of the head. Premature cranial suture ossification at which of the following sites is the most likely cause of this patient’s condition?
A) Bicoronal
B) Lambdoid
C) Metopic
D) Sagittal
E) Unicoronal
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.
In the Tessier system, which of the following classifications represents the most common facial cleft?
A) Tessier No. 0
B) Tessier No. 3
C) Tessier No. 7
D) Tessier No. 9
E) Tessier No. 14
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.
The ear anomaly depicted in the photograph shown is most commonly found in patients with which of the following syndromes?
A) Apert
B) Klippel-Trenaunay
C) Stickler
D) Treacher Collins
E) Van der Woude
The correct response is Option D.
The photograph depicts a patient with lobular type microtia and represents failure of formation of the pinna of the ear. Patients commonly have stenosis or absence of the external auditory canal, and in cases of lobular type microtia, exhibit a microtic remnant composed of malformed cartilage and fibrofatty tissue that is reminiscent of the ear lobule. This condition may be seen in isolation but is commonly seen in cases of hemifacial microsomia and Treacher Collins syndrome. Treacher Collins syndrome, or mandibulofacial dysostosis, exhibits a broad phenotypic spectrum and is commonly seen with hypoplasia or absence of the zygoma, coloboma of the lower eyelid, lateral canthal dystopia, absence of the medial lower eyelid lashes, mandibular hypoplasia with a steep occlusal plane, and abnormalities of the external ear, including microtia.
Apert syndrome results from FGFR2 mutations Ser252Trp or Pro253Arg and results in multisuture craniosynostosis, mid-face hypoplasia, complex syndactyly, cystic acne, and other less common findings. It is transmitted as an autosomal dominant condition.
Stickler syndrome is inherited in autosomal dominant and recessive patterns. It results from mutations in collagen genes COL2A1, COL11A1, and COL11A2. This may manifest with ocular abnormalities including early-onset cataracts, vitreous anomalies, retinal detachments, and severe myopia. Patients may have sensorineural hearing loss. Mandibular hypoplasia and Pierre Robin sequence is common in these patients.
Van der Woude syndrome results from a mutation of the IRF6 gene and is a common autosomal dominant condition associated with cleft lip and palate. Patients characteristically exhibit lower lip pits.
Finally, Klippel-Trenaunay syndrome is a congenital capillary-lymphatic-venous malformation of the lower extremity with associated soft tissue and bony overgrowth. This condition is caused by a somatic mutation in the PIK3CA gene and is therefore on the phenotypic spectrum with CLOVES syndrome and other PIK3CA-related overgrowth syndromes (PROS).
A 6-year-old boy presents with a right-sided craniofacial cleft involving the medial third of the upper eyelid with canthal involvement and orbital malposition. Which of the following best represents the Tessier cleft classification for this patient?
a. No. 3
b. No. 5
c. No. 11
d. No. 13
The correct response is Option C.
The number 11 cleft is the cranial extension of the number 3 facial cleft. The cleft originates in the medial orbit and often involves the upper lid as a coloboma or a blepharon. The cleft may also extend into the eyebrow and up to the frontal hairline with a projection of hair extending into the medial third of the forehead.
The number 13 cleft is the paramedial extension of the number 1 facial cleft. The eyelid, eyebrow, and canthal structures are intact in the number 13 cleft, but the medial brow may be displaced inferiorly. There may be V-shaped paramedial projection of the frontal hairline as well as a frontal encephalocele. The skeletal abnormality of the cleft occurs between the nasal bone and the frontal process of the maxilla, causing hypertelorism and widening of the ethmoids, as well as frontal soft tissue and bony abnormalities.
The number 5 cleft begins medial to the lateral oral commissure, proceeding cephalad toward the middle third of the lower eyelid. There is frequently a soft tissue deficiency between the mouth and the lower lid, increasing the risk for corneal exposure. The skeletal defect of the cleft originates in the alveolus, lateral to the canine, and extends through the maxillary sinus to the inferolateral orbit, lateral to the infraorbital foramen.
The number 3 Tessier cleft is often referred to as the oro-naso-ocular cleft. When isolated to the lip, the number 3 cleft can mimic a common cleft lip, beginning at Cupid’s bow peak and extending to the lateral nasal sill. The cleft can extend through the lateral ala to the lower eyelid between the medial canthus and the inferior punctum. A significant soft tissue deficit of the midface may be present with inferior displacement of the lower lid and globe, as well as microphthalmia of the globe. The skeletal defect of the number 3 cleft originates in the alveolus, between the lateral incisor and canine, and extends cephalad to the lateral piriform aperture and medial orbit, terminating in the lacrimal groove of the inferior medial orbit.
Reference(s)
- Goldstein JA, Losee JE. Craniofacial clefts and orbital hypertelorism. In: Chung KC, ed. Grabb and Smith’s Plastic Surgery. 8th ed. Philadelphia, PA: Wolters Kluwer; 2020:chap 32.
- Losee JE, Kirschner RE. Rare craniofacial defects. In: Losee JE, Kirchner RE, eds. Comprehensive Cleft Care. Vol. 2. 2nd ed. New York, NY: Thieme Medical Publishing; 2016.
A 20-month-old girl is brought to the office for evaluation of mid face hypoplasia, craniosynostosis, and anomalies of the hands and feet. The most likely cause of these findings is a genetic error in which of the following?
A) 22q.11
B) FGFR2
C) IRF6
D) TCOF1
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.
In patients with syndromic craniosynostosis, successful mid facial distraction is most likely to result in which of the following outcomes?
A) Decreased ANB angle
B) Decreased exorbitism
C) Decreased upper airway volume
D) Increased negative overjet
E) Increased SNB angle
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.
The 2-year-old boy shown has features typical of which of the following syndromes?
(A) Apert
(B) Binder
(C) Crouzon
(D) Pfeiffer
(E) Treacher Collins
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.
A 3-year-old boy is brought for evaluation of a right frontotemporal cranial defect. A photograph is shown. Which of the following materials is most appropriate for reconstruction?
A) Autologous bone
B) Bone morphogenetic protein (BMP)
C) Calcium phosphate paste
D) Porous polyethylene
E) Titanium mesh
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.
In patients with Binder syndrome, the most likely physical finding is hypoplasia of which of the following structures?
(A) Anterior cranial base
(B) Anterior nasal floor
(C) Anterior wall of the maxilla
(D) Medial orbital wall
(E) Nasal septum
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.
A 6-year-old boy is brought to the office because of persistent hypernasal speech. He has a history of cardiac anomalies and learning difficulties. Physical examination shows a broad nose, malar flattening, epicanthal folds, retrognathia, and vertical maxillary excess. Intraoral examination shows a bifid uvula and a palpable notch of the posterior nasal spine. Which of the following imaging studies is most appropriate prior to surgical intervention?
A) Carotid angiography
B) MRA of the head and neck
C) PET scan of the brain
D) Renal ultrasonography
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.
A 25-year-old woman has facial asymmetry. She says that she has had progressive loss of soft-tissue volume on the right side of the face since age 10 years that became stabilized four years ago. Examination shows significant subcutaneous atrophy of the right side of the face without bony asymmetry. She also has hypopigmentation of the iris on the affected side.
Which of the following is the most appropriate management?
(A) Bone graft augmentation of the midface
(B) Alloplastic augmentation
(C) Reconstruction with a microvascular serratus anterior free flap
(D) Reconstruction with a microvascular parascapular free flap
(E) Reconstruction with a superficial temporal fascia flap
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.
A 9-year-old girl is brought for evaluation by her mother because of a 1-year history of headaches and precocious puberty. Physical examination shows café-au-lait spots over her abdomen and a bony prominence of her right parieto-occipital area. CT scan of the calvarium is shown. Which of the following is the most likely diagnosis?
A ) Klippel-Feil syndrome
B ) McCune-Albright syndrome
C ) Paget disease
D ) Proteus syndrome
E ) Renal osteodystrophy
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.
A 2-month-old male infant is brought to the office because of mid face hypoplasia, craniosynostosis, and bilateral hand and foot anomalies. A photograph of the left foot is shown. This patient most likely has which of the following syndromes?
A) Apert
B) Crouzon
C) Goldenhar
D) Nager
E) Treacher Collins
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.
Mutation of the fibroblast growth factor receptor (FGFR) has been most commonly associated with which of the following single-suture synostoses?
(A) Lambdoid
(B) Metopic
(C) Sagittal
(D) Squamosal
(E) Unicoronal
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.
An 8 €‘month-old girl is brought to the office for evaluation of the skull asymmetry shown. Physical examination shows posterior plagiocephaly with flattening of the right occipital area and an ipsilateral mastoid bulge. CT scan is shown. Which of the following is the most appropriate management for correction of this deformity?
(A) No treatment
(B) Modification of sleep position
(C) Molding helmet therapy
(D) Remodeling of the posterior vault
(E) Bilateral fronto €‘orbital advancement and remodeling
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.
A 5-year-old boy is referred for evaluation of facial asymmetry. His parents report that they have noticed asymmetry since birth and believed it would improve with time, but it has not. The patient has no history of surgery or physical therapy. On physical examination, the physician notes skull asymmetry and facial asymmetry, including the orbits; there is no obvious neck tilt. A CT scan of the head is most likely to show which of the following?
A) Deformational plagiocephaly
B) Lambdoid craniosynostosis
C) Torticollis
D) Unicoronal craniosynostosis
E) Zygomaticotemporal craniosynostosis
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.
A 5-year-old boy has an interrupted aortic arch, low-set ears, broad nasal bridge, velopharyngeal insufficiency, and hypoparathyroidism. A photograph is shown. Which of the following additional findings are most likely in this patient?
A) Facial asymmetry, microtia
B) High myopia, retinal detachment
C) Lower eyelid coloboma, downward-slanting palpebral fissures
D) Lower lip pits, salivary mucous drainage
E) T-cell immunodeficiency, chronic otitis media
The correct response is Option E.
22q11.2 Deletion syndrome (also known as DiGeorge, velocardiofacial, and conotruncal anomaly face syndromes) is often identified with help of the “CATCH 22” mnemonic, which refers to its characteristics of cleft palate, abnormal facies, thymic hypoplasia, cardiac malformations, and hypoparathyroidism. T-cell immunodeficiency and recurrent otitis media infections occur secondary to thymic hypoplasia and cleft-related ear anomalies.
Van der Woude syndrome is characterized by cleft palate and/or cleft lip, and lower lip pits/fistulae. Abnormal salivary gland morphology and hypodontia may also occur.
Treacher Collins syndrome (mandibulofacial dysostosis) is characterized by malar and mandibular hypoplasia, down-slanting palpebral fissures, lower eyelid coloboma, and ear anomalies.
Stickler syndrome type 1 is characterized by cleft palate, facies such as mid-face hypoplasia/retrusion, myopia with increased risk for retinal detachment, sensorineural hearing loss, and joint abnormalities including hypermobility and early-onset osteoarthritis.
Hemifacial microsomia is characterized by small and/or flattened maxillary, temporal, and zygomatic bones. Facial asymmetry is further apparent upon animation when soft tissue and nerve hypoplasia occur. Oral clefts and ear anomalies are commonly involved, as well as underdevelopment of the orbits.
Van der Woude syndrome, Treacher Collins syndrome, Stickler syndrome, and hemifacial microsomia are all unrelated to hypoparathyroidism.
An 11-year-old girl who is undergoing evaluation because of the appearance of her nose. Examination shows a short, flattened nasal bridge and midface hypoplasia. The anterior nasal spine is absent on radiographs. Which of the following is the most likely diagnosis?
(A) Binder’s syndrome
(B) Goldenhar’s syndrome
(C) Nager’s syndrome
(D) Treacher Collins syndrome
(E) Velocardiofacial syndrome
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.
A 40-year-old Caucasian woman comes to the office for consultation because she is dissatisfied with the appearance of her smile. Physical examination shows bilabial incompetence, malocclusion, a retrusive chin, and a gummy smile. Cephalometric analysis shows decreased SNA and SNB angles. Which of the following is the most likely diagnosis?
A) Mandibular deficiency
B) Mandibular excess
C) Maxillary retrusion
D) Vertical maxillary deficiency
E) Vertical maxillary excess
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.
A 5-year-old girl has craniosynostosis, a low-set hairline, ptosis, and 4th/5th-digit syndactyly of both hands. Genetic testing is most likely to show a mutation in which of the following genes?
A) EFNB1
B) FGFR2
C) FGFR3
D) MPDZ1
E) TWIST1
The correct response is Option E.
The clinical picture is consistent with Saethre-Chotzen syndrome. It is an autosomal dominant condition defined by a genetic mutation or deletion affecting the TWIST1 gene or chromosome 7p21. FGFR2 mutations are predominantly associated with Apert, Crouzon, and Pfeiffer syndromes. FGFR3 mutations are associated with Muenke syndrome and Crouzon syndrome with acanthosis nigricans. EFNB1 is associated with craniofrontonasal syndrome. MPDZ1 is associated with hydrocephalus.
A 3-month-old infant presents with scaphocephaly and sagittal suture ridging. Spring-assisted cranioplasty with an endoscopic approach is planned. Which of the following is an advantage of this procedure over open cranial vault remodeling procedures?
A) Decreased need for additional surgeries
B) Greater control of bony movements
C) Improved aesthetic outcomes
D) Less blood loss
E) Lower risk for developing neurocognitive impairment
The correct response is Option D.
Spring-assisted cranioplasty or spring-assisted synostosis surgery is a technique to address sagittal craniosynostosis. This procedure is similar in approach to suturectomy/helmet procedures, which involve removal of the fused suture via small incisions, often with the assistance of an endoscope. In spring-assisted cranioplasty, however, no helmet is applied to the skull to reshape it. Rather, two to three stainless steel springs are placed between the now separated parietal bones that are widened over time as the springs expand. These springs need to be removed around 4 months later in a short second operation. Compared with more traditional open cranial vault reconstruction procedures, spring-assisted cranioplasty is associated with decreased blood loss, shorter operative time (even including the second surgery) and hospital stay, and comparable aesthetic and neurocognitive outcomes. The surgeon is, however, compromising control of the postoperative outcome in favor of the smaller surgical footprint and the guaranteed second surgery required to remove the springs.
A 10-month-old male infant with 22q11.2 deletion and preoperative basic metabolic profile within the reference range is scheduled for palatoplasty to treat a soft palate cleft. After surgery, which of the following laboratory studies is most appropriate within the first 6 hours?
A) Fluorescent in situ hybridization
B) Measurement of serum phosphate concentration
C) Measurement of serum calcium concentration
D) Measurement of serum potassium concentration
E) Measurement of serum sodium concentration
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.
A 16-month-old male infant is brought to the physician because of congenital anomalies of both feet. The dorsal and plantar aspects are depicted in the photographs shown. Which of the following is the most likely diagnosis?
A) Apert syndrome
B) Crouzon syndrome
C) Jackson-Weiss syndrome
D) Pfeiffer syndrome
E) Saethre-Chotzen syndrome
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.
An otherwise healthy 10-month-old female infant is brought to the office because her parents are concerned about the appearance of her head. Examination shows left frontal and left posterior flattening with deviation of the nasal root to the left side. Which of the following is the most appropriate management?
A ) Molding helmet
B ) MRI of the head
C ) Positioning
D ) Surgery
E ) Observation only
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.
In the Tessier system, which of the following classifications represents the most common facial cleft?
(A) Tessier No. 0
(B) Tessier No. 3
(C) Tessier No. 7
(D) Tessier No. 9
(E) Tessier No. 14
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.
A 12-hour-old male newborn is evaluated in the neonatal intensive care unit. A diagnosis of CHARGE syndrome is suspected. Review of the medical record and physical examination show congenital heart defect, eyelid colobomas, microtia, hypogonadism, and growth retardation. Which of the following additional conditions is/are most likely in this patient?
A) Craniosynostosis
B) Intrahepatic hemangiomas
C) Lower lip pits
D) Orofacial cleft
E) Syndactyly
The correct response is Option D.
Cleft lip and/or palate is found in up to 20% of patients with CHARGE syndrome (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). 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.
The 2-year-old boy shown is scheduled to undergo cleft repair. Which of the following is the most appropriate Tessier classification of this cleft?
(A) Tessier No. 0
(B) Tessier No. 3
(C) Tessier Nos. 6, 7, and 8
(D) Tessier No. 7
(E) Tessier No. 14
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.
A 7-year-old boy has hypernasality and velopharyngeal incompetence. He underwent repair of a ventricular septal defect at birth and repair of a cleft palate at age 9 months. His mother says that he has had difficulties with language learning. Physical examination shows upward slanting of the palpebral fissures, a broad nasal root, a small mouth, and a thin upper lip.
Which of the following studies is most likely to lead to a diagnosis in this patient?
(A) Measurement of serum creatine kinase level
(B) Chromosomal karyotyping
(C) Fluorescent in situ hybridization (FISH) analysis
(D) MR angiography
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. -
The diagnosis of 22q11.2DS is suspected when clinical symptoms are present. The diagnosis is confirmed by a blood test that can detect a microscopic chromosomal deletion on chromosome 22. There are many new tests to detect this deletion including whole genome array, SNP array, comparative genomic hybridization, and MLPA. FISH studies have also been useful in finding the deletion in most patients. Furthermore, routine chromosome (cytogenetic) testing is also performed because a small number of affected individuals have a chromosome rearrangement involving chromosome 22q which may change the recurrence risk counseling for the parents.
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.
Synonyms
Autosomal dominant Opitz G/BBB syndrome
Cayler cardiofacial syndrome
conotruncal anomaly face syndrome
DiGeorge syndrome
Shprintzen syndrome
Velocardiofacial syndrome
22q11.2 deletion syndrome
A 2-year-old girl is brought to the office because of the lower eyelid colobomas and malar deficiency shown in the photograph. Which of the following syndromes is most likely?
A) Apert
B) Crouzon
C) Goldenhar
D) Pfeiffer
E) Treacher Collins
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.
Which of the following facial anomalies is most common in patients with craniofacial microsomia?
(A) Facial nerve palsy
(B) Mandibular hypoplasia
(C) Maxillary hypoplasia
(D) Microtia
(E) Parotid gland hypoplasia
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.
Which of the following findings is commonly caused by non-syndromic unicoronal synostosis?
A) Anterior displacement of the ipsilateral ear
B) Deviation of the root of the nose to the contralateral side
C) Flattening of the ipsilateral aspect of the occiput
D) Occlusal cant up on the ipsilateral side
E) Recession of the contralateral forehead
Correct answer 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.
According to the Tessier classification, which of the following clefts is most closely associated with macrostomia?
(A) No. 1
(B) No. 3
(C) No. 5
(D) No. 7
(E) No. 9
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.
Which of the following synostoses is most predictably treated with endoscopic suturectomy and postoperative orthotic molding?
A) Coronal
B) Lambdoidal
C) Metopic
D) Sagittal
E) Squamosal
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.
Mutations in the genetic loci for the fibroblast growth factor receptors (FGFR) have been shown to occur with greater frequency in patients with synostosis of which of the following sutures?
(A) Coronal
(B) Lambdoid
(C) Metopic
(D) Sagittal
(E) Squamosal
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.
A 23-year-old woman with severe progressive hemifacial atrophy that has been stable for 3 years now desires a long-term stable reconstruction. Which of the following is the most appropriate recommendation for reconstruction of this patient’s facial asymmetry?
A) Alloplastic bony augmentation
B) Contralateral suction lipectomy
C) Delay reconstruction until it has been stable for 10 years
D) Free tissue transfer
E) Hyaluronic acid injections
The correct response is Option D.
Progressive hemifacial atrophy is also known as Parry-Romberg syndrome. The progression is ultimately self-limiting. Reconstruction 2 years or more after burn out is commonly accepted. For very mild asymmetry, hyaluronic acid fillers can improve symmetry, but require recurrent treatments. For mild to moderate asymmetry, microfat grafting can restore symmetry. Multiple sessions may be required to achieve long-term correction. For severe asymmetry, free muscle flap with parascapular flap or anterolateral thigh flap can provide enough soft tissue bulk for long-term correction.
Alloplastic bony augmentation would correct any potential bony deficiencies, but would not address any soft tissue deficiencies.
A 6-month-old female infant presents with a wide, tall forehead, low-set ears, and supraorbital rim retrusion. CT scan demonstrates bicoronal synostosis. Genetic testing is positive for TWIST mutation. Which of the following additional findings is/are characteristic of this patient’s disorder?
A) Cervical spine anomalies
B) Complete cartilaginous tracheal rings
C) Eyelid ptosis
D) Gastroschisis
E) Thumb duplication
The correct response is Option C.
The patient described has Saethre-Chotzen syndrome as confirmed by bilateral coronal synostosis, low-set ears, and mutations of the TWIST gene. In addition to these findings, patients with Saethre-Chotzen syndrome often have eyelid ptosis, which is a distinguishing feature from other forms of syndromic craniosynostosis. It is important to recognize ptosis in infants and young children in order to maintain adequate visual pathway development. Thumb duplication is not found in patients with Saethre-Chotzen syndrome. Tracheal anomalies are associated with Pfeiffer syndrome. Cervical spine anomalies can be found in both Apert and Pfeiffer syndromes. Gastroschisis is not associated with syndromic craniosynostosis.
A 2-year-old boy is referred for evaluation of an abnormal frontal prominence that his parents report has become more noticeable during the past year. A photograph is shown. He is otherwise healthy and is meeting all developmental milestones. A CT scan obtained at the request of his pediatrician shows closure of the metopic suture with ectocortical thickening; no other abnormalities are noted. Which of the following is the most appropriate next step in management?
A) Endoscopic suturectomy and postoperative helmet therapy
B) Fronto-orbital advancement
C) Spring-mediated frontal distraction
D) Total calvarial remodeling
E) Observation
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.
A 10-month-old boy with uncorrected left coronal synostosis is brought for evaluation by his parents who have noticed that the boy’s head is tilted to the right. On physical examination, the head can be straightened to a neutral position easily; there is no palpable mass or firmness within the sternocleidomastoid muscle.
Which of the following is the most likely cause?
(A) Muscular torticollis
(B) Paresis of the contralateral superior oblique muscle
(C) Paresis of the ipsilateral superior oblique muscle
(D) Paresis of the contralateral superior rectus muscle
(E) Paresis of the ipsilateral superior rectus muscle
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.
In the Tessier system, which of the following classifications represents the most common facial cleft?
(A) Tessier No. 0
(B) Tessier No. 3
(C) Tessier No. 7
(D) Tessier No. 9
(E) Tessier No. 14
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.
A 15-year-old girl with a history of an optic glioma, multiple café-au-lait spots, and a large plexiform neurofibroma of the cheek comes to the office for evaluation. Which of the following best represents her lifetime risk of developing a malignant peripheral nerve sheath tumor?
A ) Less than 15%
B ) 20% to 35%
C ) 40% to 60%
D ) 65% to 80%
E ) Greater than 85%
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.
A 2-month-old infant is referred for evaluation because he has an abnormal head shape. Physical examination shows low-set ears; short, webbed fingers; and duplicate great toes. A CT scan shows sagittal and lambdoid synostosis. A mutation in which of the following genes is most likely responsible for these findings?
A) FGFR1
B) FGFR2
C) FGFR3
D) RAB23
E) TWIST1
The correct response is Option D.
This child has Carpenter syndrome. This syndrome is caused by a mutation in the RAB23 gene, which is located on chromosome 6. Carpenter syndrome is inherited in an autosomal recessive manner, but it can also be caused by de novo mutation in RAB23. In addition to synostosis, symbrachydactyly and preaxial polydactyly are found in patients with Carpenter syndrome.
Mutations in the other genes listed are all associated with syndromic craniosynostoses. Fibroblast growth factor receptor (FGFR) mutations have been associated with several differing syndromes: FGFR1 mutations cause Pfeiffer syndrome, FGFR2 mutations cause Apert and Crouzon syndromes, and FGFR3 mutations cause Muenke syndrome. A mutation of the TWIST1 gene causes Saethre-Chotzen syndrome.
A 4-month-old child has an abnormal head shape. Physical examination shows anterior displacement of the right ear and zygoma and the right side of the forehead; there is abnormal flattening of the right side of the occipital skull. The skull shape appears similar to a parallelogram. There is no bulging of the mastoid or ridging of the sutures.
These findings are most consistent with which of the following?
(A) Bilateral posterior deformational plagiocephaly
(B) Left-sided posterior deformational plagiocephaly
(C) Left-sided posterior lambdoidal craniosynostosis
(D) Right-sided posterior deformational plagiocephaly
(E) Right-sided posterior lambdoidal craniosynostosis
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.
A 2-week-old male newborn is brought to the office for evaluation of median craniofacial dysraphia. His parents say that aside from the deformity, the child is thriving. Physical examination shows Tessier No. 0 and 14 clefts. A clinical photograph and a three-dimensional CT scan are shown. Which of the following additional findings is most likely in this patient?
A) Choanal atresia
B) Contact between the dura and ectoderm through the anterior fontanelle
C) Failure of closure of the foramen cecum
D) Heterotopic glial tissue
E) Rathke pouch cyst
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.
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
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.
A 2-day-old male newborn is evaluated in the neonatal intensive care unit because of a “jaw deformity” and difficulty breathing. The patient was born at term following an uncomplicated pregnancy and delivery. He responds appropriately to stimulation. Examination shows micrognathia, glossoptosis, and a cleft palate. The infant demonstrates retractions while breathing. Pulse oximetry shows an oxygen saturation of 92%. Which of the following is the most appropriate initial management?
A ) CT scan of the head with three-dimensional reconstruction
B ) Endoscopic evaluation of the airway
C ) Prone positioning of the newborn
D ) Tongue-lip adhesion
E ) Tracheostomy
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.
In mandibular distraction osteogenesis, the central region of the distraction gap is described as which of the following zones?
(A) Chondrocytic zone
(B) Fibrous zone
(C) Remodeling bone zone
(D) Transition zone of extending bone
(E) Zone of mature bone formation
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.
A 30-year-old primigravid woman is referred to the office because ultrasonography showed polyhydramnios at 22 weeks’ gestation. Additionally, the fetus was observed to have macrosomia, omphalocele, macroglossia, and microtia. There is no evidence of nephromegaly or hepatomegaly. A groove between the lobule and antitragus is noted. Chromosomal analysis indicates rearrangements on chromosome 11p15. Which of the following is the most likely diagnosis?
A) Beckwith-Wiedemann syndrome
B) Binder syndrome
C) Diabetic fetopathy
D) Down syndrome
E) van der Woude syndrome
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.
Which of the following best describes the growth pattern of the calvarium relative to a fused suture?
A) Oblique
B) Parallel
C) Perpendicular
D) No relation
The correct response is Option B.
Virchow’s law states that bone surrounding a prematurely fused suture only grows parallel to the suture, while growth perpendicular to the suture is restricted. This contributes to the characteristic patterns of cranial shape in the various types of synostoses. Sagittal fusion yields a skull that is long in the anteroposterior direction and narrow bitemporally. Metopic fusion yields a triangular-shaped skull due to constriction caused by the anterior, medial metopic suture. Unilateral coronal synostosis yields an asymmetric skull, notably for a trapezoidal appearance from the overhead inspection. While there may be some ridging above and below the affected suture, this does not represent the growth of normal calvarial bone.
- A 3-year-old boy is brought to the office by his parents for consultation for macrostomia caused by a lateral facial cleft. This patient is most likely to have a bony defect that traverses which of the following locations?
- A ) Mandibular bicuspid
- B ) Mandibular lateral incisor
- C ) Maxillary canine
- D ) Maxillary lateral incisor
- E ) Maxillary second molar
•
•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.
A 48-year-old man is evaluated after a motor vehicle crash, and CT scanning of the head shows a moderately displaced anterior/posterior frontal sinus fracture. The images are shown. The patient also has associated rhinorrhea; the fluid is sent for analysis. Which of the following is the most sensitive diagnostic finding that would indicate treatment of the fracture with cranialization and surgical repair of the dural tear?
A) High bacterial contamination
B) High glucose content
C) Low hemoglobin percentage
D) Positive beta-2 transferrin level
E) Salty postnasal drainage
The correct response is Option D.
A frontal sinus fracture involving the anterior and posterior tables with displacement greater than one table width and associated cerebrospinal fluid (CSF) leak mandates treatment with cranialization and repair of the dural tear. While minimally displaced posterior table fractures with CSF leak may be observed for spontaneous resolution of the leak, any significant displacement will likely not allow the dural tear to adequately heal and significantly increases the risk for bacterial contamination and meningitis.
Accurately diagnosing the presence of a CSF leak in conjunction with significantly displaced posterior table frontal sinus fractures is important in deciding the ultimate management of these complex injuries. The beta-2 transferrin level is the most sensitive test for diagnosis of a true CSF leak. While CSF fluid does tend to have a high glucose content, this could also be seen in bloody rhinorrhea as well and is not as sensitive as a beta-2 transferrin test. Likewise, although CSF rhinorrhea often presents as a salty tasting postnasal drainage, this finding is more subjective and has poor sensitivity. Low hemoglobin concentrations are unlikely after acute fractures but can also be present without CSF leak. High bacterial contamination of the rhinorrhea does not correlate with CSF leak, but the risk for bacterial contamination of the meninges leading to meningitis is the reason for aggressive treatment of displaced posterior table frontal sinus fractures with associated CSF leak.
- A 3-year-old boy with hemifacial microsomia has the anomaly shown in the photograph. Which of the following is the most likely diagnosis?
- A ) Goldenhar syndrome
- B ) Stickler syndrome
- C ) Treacher Collins syndrome
- D ) Van der Woude syndrome
- E ) Velocardiofacial 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 (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.
- Patients with which of the following syndromes typically demonstrate hypernasality with speech?
- A ) Crouzon
- B ) Hemifacial microsomia
- C ) Pfeiffer
- D ) Saethre-Chotzen
- E ) Velocardiofacial
- 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.
A 20-year-old woman is evaluated for facial asymmetry due to loss of volume on one side of the face. She has no history of trauma or infection to that side of her face. Physical examination shows normal dental occlusion with normal bony anatomy and no cranial nerve deficits. She has a mild-to-moderate deficiency of soft tissue along the cheek between the zygomatic and mandibular areas of the face. Which of the following is the most appropriate intervention for correction of this patient’s hemifacial atrophy?
A) Adipofascial free flap
B) Autologous fat grafting
C) Distraction osteogenesis
D) Hyaluronic acid filler
E) Silicone injection
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.
An 8-year-old girl has bilateral coloboma and retraction of the lower eyelids, ptosis of the upper eyelids, inferior displacement of the lateral canthi, hypoplasia of the temporalis muscles, microtia, and abnormal hairline. Which of the following additional findings in this patient represents the main underlying characteristic of the full expression of Treacher Collins syndrome?
A) Absence of the malar bone and zygomatic arch
B) Bilateral Tessier cleft number 4
C) Deformed mandibular condyle
D) Premature fusion of the coronal sutures
E) Tessier cleft numbers 0 and 14
Correct answer 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.
A 3-month-old male infant presents with left occipital flattening and associated external ear and facial asymmetry. Significant head tilt and limited range of motion with neck rotation are noted on physical examination. A photograph is shown. Which of the following muscles is most likely contributing to the patient’s plagiocephaly?
A) Digastric
B) Platysma
C) Splenius cervicis
D) Sternocleidomastoid
E) Trapezius
The correct response is Option D.
Congenital muscular torticollis occurs as a result of sternocleidomastoid shortening, presenting as head tilt and limited range of motion with neck rotation. The inability to rotate the neck increases the time spent in the preferred position and contributes to deformational plagiocephaly. The digastric muscle acts to elevate the hyoid, while the platysma is involved in facial expression. The splenius cervicis extends the spinal column, and the trapezius functions to maintain posture and stabilize the scapula.
A 12-year-old girl is evaluated for left-sided progressive hemifacial atrophy. Onset of symptoms started at 10 years of age. She has a history of migraines and experienced a seizure 1 year ago. Physical examination shows left-sided facial atrophy including cheek depression, enophthalmos, and dry skin with hyperpigmentation and alopecia. Maxillofacial CT scan shows associated skeletal changes. Which of the following clinical features is most likely associated with the early onset of the disease process?
A) Enophthalmos
B) Facial paralysis
C) Hyperpigmentation
D) Seizure disorder
E) Skeletal atrophy
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.
A 2-month-old female infant is brought to the office because her parents are concerned about the flat appearance of her forehead that they first noticed 2 weeks ago. Physical examination shows flattening of the right side of the forehead and left side of the occiput, and the left ear is positioned farther forward than the right. A photograph is shown. Which of the following is the most appropriate initial management?
A ) Calvarial vault remodeling
B ) CT scan
C ) MRI
D ) Placement of a molding helmet
E ) Repositioning exercises
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.
Which of the following syndromes is most commonly associated with Pierre Robin sequence?
A) Beckwith-Wiedemann
B) Facial microsomia
C) Stickler
D) Treacher Collins
E) Velocardiofacial
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.
- Which of the following cranial sutures is the first to undergo physiologic closure?
- A ) Coronal
- B ) Lambdoid
- C ) Metopic
- D ) Sagittal
- E ) Squamosal
•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).
A 6-year-old girl is referred for velopharyngeal dysfunction and on physical examination is found to have a submucous cleft and bifid uvula. Which of the following additional clinical findings is most likely to support the diagnosis of 22q11.2 deletion syndrome?
A) Hypocalcemia
B) Hypothyroidism
C) Microtia
D) Overjet
E) Retinal detachment
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.
In patients with Treacher Collins syndrome, which of the following is a characteristic skeletal finding?
A) Brachycephaly
B) Hypertelorism
C) Macrogenia
D) Malar hypoplasia
E) Preaxial polysyndactyly
Correct answer 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.
If the 13-year-old boy whose CT scan is shown has an epibulbar dermoid, the most appropriate classification of his condition is which of the following syndromes?
(A) Goldenhar
(B) Stickler
(C) Treacher Collins
(D) Van der Woude
(E) Velocardiofacial
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.
A 4-month-old infant has had a mass on the central nasal bridge (shown above) since birth. Physical examination shows a mass measuring 0.5 _ 1 cm that is soft and minimally mobile with a central pore. MRI of the head is shown above. Based on these clinical findings, which of the following is the most likely diagnosis?
(A) Dermoid cyst
(B) Encephalocele
(C) Glioma
(D) Lipoma
(E) Vascular malformation
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.
Which of the following congenital clefts involves the lower eyelid?
A) 0
B) 1
C) 5
D) 8
E) 9
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.