Craniofacial Flashcards
A 2-day-old female newborn is evaluated in the neonatal intensive care unit. Physical examination shows epicanthal folds, a flat nasal bridge, and a wide U-shaped cleft palate. She has micrognathia with 12 mm of overjet, substernal and costal retractions and desaturations while supine, and is not able to feed orally. Ophthalmologic evaluation shows bilateral cataracts. Which of the following metabolic abnormalities is most likely responsible for this patient’s condition?
A) Abnormal cellular response to fibroblast growth factor
B) Abnormal formation of collagen II
C) Abnormal regulation of craniofacial bone and suture embryogenesis
D) Dysregulation of embryogenesis caused by a multi-gene deletion on chromosome 22
E) Inadequate production of surfactant by the lungs
The correct response is Option B.
The neonatal patient described in the vignette has clear signs of respiratory distress in the setting of micrognathia and glossoptosis, also known as Pierre Robin sequence (PRS). PRS can be isolated or associated with a broad metabolic disturbance, the most common of which is Stickler syndrome. Stickler syndrome is a disruption of the formation of collagen, which can lead to multiple congenital anomalies including a flat nasal bridge, hearing loss, cleft palate, limb anomalies, micrognathia, and ophthalmologic issues including cataracts.
Mutations in the fibroblast growth factor receptor can lead to syndromic forms of craniosynostosis such as Apert, Crouzon, or Pfeiffer syndromes. Disruption of suture embryogenesis is caused by a mutation in the TWIST1 gene and gives rise to Saethre-Chotzen syndrome. Deletion of the small arm of chromosome 22 leads to 22q11.2 deletion syndrome, previously known as DiGeorge syndrome or Velocardiofacial syndrome. Lack of lung surfactant is most often caused by prematurity and is not associated with PRS.
References
Bütow KW, Morkel JA, Naidoo S, Zwahlen RA. Pierre Robin sequence: subdivision, data, theories, and treatment - part 2: syndromic and nonsyndromic Pierre Robin sequence. Ann Maxillofac Surg. 2016 Jan-Jun;6(1):35-37.
Gomez-Ospina N, Bernstein JA. Clinical, cytogenetic, and molecular outcomes in a series of 66 patients with Pierre Robin sequence and literature review: 22q11.2 deletion is less common than other chromosomal anomalies. Am J Med Genet A. 2016 Apr;170A(4):870-880.
Mingo KM, Sidman JD, Sampson DE, Lander TA, Tibesar RJ, Scott AR. Use of external distractors and the role of imaging prior to mandibular distraction in infants with isolated Pierre Robin sequence and Stickler syndrome. JAMA Facial Plast Surg. 2016 Mar-Apr;18(2):95-100.
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.
References
Cho E, Yang TH, Shin ES, Byeon JH, Kim GH, Eun BL. Saethre-Chotzen syndrome with an atypical phenotype: identification of TWIST microdeletion by array CGH. Childs Nerv Syst. 2013 Nov;29(11):2101-4.
Chun K, Teebi AS, Jung JH, et al. Genetic analysis of patients with the Saethre-Chotzen phenotype. Am J Med Genet. 2002 Jun 15;110(2):136-43.
de Heer IM, de Klein A, van den Ouweland AM, et al. Clinical and genetic analysis of patients with Saethre-Chotzen syndrome. Plast Reconstr Surg. 2005 Jun;115(7):1894-902; discussion 1903-5.
Wilkie AOM, Johnson D, Wall SA. Clinical genetics of craniosynostosis. Curr Opin Pediatr. 2017 Dec;29(6):622-628.
A 2-year-old boy presents with swelling over the bridge of the nose that has been present since birth. The swelling has been slowly increasing in size and he has hypertelorism. The swelling is soft, compressible, and it transilluminates. There are visible and palpable pulsations, and the mass enlarges when the patient cries. Which of the following is the most likely diagnosis?
A) Encephalocele
B) Glioma
C) Hemangioma
D) Nasal dermoid cyst
E) Nasopharyngeal angiofibroma
The correct response is Option A.
Encephaloceles are neural tube defects that result in sac-like protrusions of the meninges (meningocele) or brain and meninges (meningoencephalocele) in various locations along the cranium, such as between the forehead and nose (including naso-orbital, frontonasal, and nasoethmoidal locations) or on the back of the skull. They tend to be soft, compressible masses that transilluminate that may be sessile or pedunculated. Biopsy may result in a cerebrospinal fluid leak.
Glioma is a mass of ectopic neural tissue that does not transilluminate.
Hemangiomas are benign vascular lesions that are present at birth and characterized by a rapid growth phase around the age of 1 to 6 months, followed by gradual involution over 1 to 12 years. They have no intracranial connection and no cerebral pulsations. Nasopharyngeal angiofibromas, also known as juvenile nasopharyngeal angiofibromas, are benign but locally invasive vascular tumors that occur almost exclusively in adolescent males. They present with unilateral or bilateral nasal obstruction, frequent epistaxis or blood-tinged nasal discharge. Nasal dermoid cyst is a benign cystic lesion that does not pulsate and does not transilluminate.
References
Holm C, Thus M, Hans A, et al. Extracranial correction of frontoethmoidal meningoencephaloceles: feasibility and outcome in 52 consecutive cases. Plast Reconstr Surg. 2008 Jun;121(6):386e-395e
Tirumandas M, Sharma A, Gbenimacho I et al. Nasal encephaloceles: a review of etiology, pathophysiology, clinical presentations, diagnosis, treatment, and complications. Childs Nerv Syst. 2013 May;29(5):739-44.
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.
References
Chen JT, Schmid DB, Israel JS, Siebert JW. A 26-year experience with microsurgical reconstruction of hemifacial atrophy and linear scleroderma. Plast Reconstr Surg. 2018 Nov;142(5):1275-1283.
El-Kehdy J, Abbas O, Rubeiz N. A review of Parry-Romberg syndrome. J Am Acad Dermatol. 2012 Oct;67(4):769-784.
Slack GC, Tabit CJ, Allam KA, Kawamoto HK, Bradley JP. Parry-Romberg reconstruction: optimal timing for hard and soft tissue procedures. J Craniofac Surg. 2012 Nov;23(7 Suppl 1):1969-1973.
A 15-year-old girl has a 12-month history of pain and fullness in the right supraorbital rim. She has café-au-lait spots, a history of precocious puberty, and a recent pathologic rib fracture. Which of the following is the most likely pathology of the lesion?
A) Dermoid cyst
B) Fibrous dysplasia
C) Neurofibroma
D) Osteoblastoma
E) Rhabdomyosarcoma
The correct response is Option B.
This patient has a classic presentation of McCune-Albright syndrome. Patients with McCune-Albright present with a triad of polyostotic fibrous dysplasia, precocious puberty, and skin pigmentation (eg, café au lait spots). Additionally, they may have hyperfunctioning endocrinopathies such as growth hormone excess. If these patients present with intramuscular myxomas, it is known as Mazabraud syndrome. Malignant degeneration of fibrous dysplasia has been reported in up to 4% of patients with McCune-Albright syndrome. Management depends on the clinical presentation and functional impact of the lesions, and is primarily surgical.
Patients with neurofibroma may have café au lait spots, but not precocious puberty or pathologic fractures. Dermoid cysts generally do not present with pain and are often noted at a much younger age than the patient described.
References
Havlik R. Miscellaneous craniofacial conditions. In: Thorne CH, Chung KC, Gosain AK, et al, eds. Grabb and Smith’s Plastic Surgery. 7th ed. Philadelphia, PA: Lippincott Williams and Wilkins; 2004:295-310.
Riminucci M. Craniofacial Fibrous Dysplasia. In: Lin K, Ogle RC, Jane JA, eds. Craniofacial Surgery Science and Surgical Technique. Philadelphia, PA: WB Saunders; 2004:366.
A 14-year-old girl with Crouzon syndrome presents with a severe Angle Class III malocclusion, mid face retrusion, and severe sleep apnea. She is scheduled to undergo Le Fort III advancement using distraction osteogenesis. The risk for complications with this procedure is closest to which of the following?
A) 5%
B) 20%
C) 40%
D) 60%
E) 80%
The correct response is Option B.
There are several important advantages of distraction osteogenesis for Le Fort III advancement versus conventional single-stage advancement with bone grafting and these include: less regression, greater advancement distance, and no need for bone grafting. Le Fort III distraction is not without its issues. Major and minor complications have been reported in nearly 20% of patients undergoing this procedure; these complications include bone loss, pin migration, loss of fixation, meningitis, seizures, and cerebrospinal fluid leaks. Several recent reports show that these complications occur in approximately 20% of cases.
References
Goldstein JA, Paliga JT, Taylor JA, Bartlett SP. Complications in 54 frontofacial distraction procedures in patients with syndromic craniosynostosis. J Craniofac Surg. 2015 Jan;26(1):124-128.
Knackstedt R, Bassiri Gharb B, Papay F, Rampazzo A. Comparison of complication rate between le fort III and monobloc advancement with or without distraction osteogenesis. J Craniofac Surg. 2018 Jan;29(1):144-148.
Raposo-Amaral CE, Denadai R, Pereira-Filho JC, Vieira PH, Ghizoni E, Raposo-Amaral CA. Serious complications after le fort III distraction osteogenesis in syndromic craniosynostosis: evolution of preventive and therapeutic strategies. J Craniofac Surg. 2018 Sep;29(6):1397-1401.
Which of the following genetic mutations is most likely to be found in a patient with orofacial clefting and popliteal pterygium?
A) Gain-of-function mutation in FGFR2
B) Gain-of-function mutation in NF1
C) Gain-of-function mutation in PIK3CA
D) Loss-of-function mutation in IRF6
E) Loss-of-function mutation in TCOF1
The correct response is Option D.
IRF6 mutations that result in loss-of-function have been reported in both syndromic Van der Woude syndrome as well as nonsyndromic orofacial clefting; Van der Woude syndrome can include popliteal pterygium.
PIK3CA gain-of-function mutations have been reported with venous malformations and lymphatic malformations. Mutations in TCOF1 are associated with Treacher Collins syndrome; these patients may have cleft palate, but they do not have lip pits. Gain-of-function mutations in FGFR2 have been implicated in syndromic craniosynostosis (Apert syndrome, Crouzon syndrome, and others). Mutations in NF1 result in increased RAS/MAPK signaling and neurofibromatosis type 1.
References
Azoury SC, Reddy S, Shukla V, Deng CX. Fibroblast growth factor receptor 2 (FGFR2) mutation related to syndromic craniosynostosis. Int J Biol Sci. 2017 Nov 2;13(12):1479-1488.
Green AK, Goss JA. Vascular Anomalies: From a clinicohistologic to a genetic framework. Plast Reconstr Surg. 2018 May;141(5):709e-717e.
Hao S, Jin L, Wang H et al. Mutational analysis of TCOF1, GSC, and HOSA2 in patients with treacher collins syndrome. J Craniofac Surg. 2016 Sep;27(6):e583-e586.
Leslie EJ, Koboldt DC, Kang CJ et al. IRF6 mutation screening in non-syndromic orofacial clefting: analysis of 1521 families. Clin Genet. 2016 Jul;90(1):28-34.
Wu-Chou YH, Hung TC, Lin YT et al. Genetic diagnosis of neurofibromatosis type 1: targeted next-generation sequencing with multiple ligation-dependent probe amplification analysis. J Biomed Sci. 2018 Oct 5;25(1):72.
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.
References
Alessandri JL, Dagoneau N, Laville JM, Baruteau J, Hébert JC, Cormier-Daire V. RAB23 mutation in a large family from Comoros Islands with Carpenter syndrome. Am J Med Genet A. 2010 Apr;152A(4):982-986.
Buchanan EP, Xue AS, Hollier LH Jr. Craniofacial syndromes. Plast Reconstr Surg. 2014 Jul;134(1):128e-153e.
Jenkins D, Seelow D, Jehee FS, et al. RAB23 mutations in Carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity. Am J Hum Genet. 2007 Jun;80(6):1162-1170.
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.
References
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.
A 4-year-old boy is referred to the clinic for evaluation. Medical history includes a cardiac defect requiring surgery, submucous cleft palate, hypernasality, and developmental delay. His parents report that he undergoes cardiology follow-up annually. Further testing is most likely to detect an abnormality that will require consultation with which of the following specialties?
A) Endocrinology
B) Gastroenterology
C) Immunology
D) Nephrology
E) Psychiatry
The correct response is Option C.
The patient described has 22q11.2 deletion syndrome (formerly known as velocardiofacial syndrome or DiGeorge syndrome). This syndrome is the most common chromosomal deletion error in fetuses, with a prevalence of 1 in 3000 to 6000 live births. 22q11.2 Deletion syndrome is a common cause of hypernasality. Children with congenital heart defects and hypernasality should be worked up for 22q11.2 deletion syndrome. Either a FISH probe or microarray can detect the chromosomal deletion that occurs in the LCR22A–LCR22D region of the chromosome.
Children with 22q11.2 deletion syndrome can present with a myriad of clinical manifestations. The most common clinical manifestation is a congenital cardiac defect, particularly of the outflow tracts (e.g., tetralogy of Fallot). Congenital cardiac disease remains the primary cause of mortality in this patient population.
Hypernasality is another common finding within this patient population, occurring in approximately 65% of patients with 22q11.2 deletion syndrome. Classic workup for this involves imaging of the velopharyngeal mechanism (either nasopharyngoscopy or video fluoroscopy) and imaging of the posterior pharyngeal pharynx with MRI and evaluation of aberrant/medialization of the internal carotid arteries.
Immunologic abnormalities are the most common of the group. A referral to immunology should be initiated in all patients with 22q11.2 deletion syndrome since up to 75% of this patient population can have thymic hypoplasia and diminished T cell production. Children with 22q11.2 deletion syndrome can have chronic infections and poor responses to vaccinations.
Gastrointestinal conditions such as poor feeding, gastroesophageal reflux, and vomiting or constipation occur in approximately 30% of patients with 22q11.2 deletion syndrome. More concerning GI conditions such as malrotation or tracheoesophageal fistula have been found in patients with this syndrome.
Hypocalcemia secondary to hypoparathyroidism can present as tetany, seizures, or feeding issues. Hypocalcemia presents in approximately 50 to 65% of patients with 22q11.2 deletion syndrome. Thyroid function can also be abnormal with hypothyroidism possible.
Nephrology consultation should be considered if abdominal ultrasonography shows renal agenesis, duplication of the collecting system, or cystic kidney disease. About 33% of patients with 22q11.2 deletion syndrome have some abnormality related to the genitourinary system.
Patients with 22q11.2 deletion syndrome are at increased risk for psychiatric disorders such as attention-deficit/hyperactivity disorder (ADHD), autism spectrum disorder, and anxiety (particularly when they progress into adulthood). The rate of schizophrenia is increased in this patient population compared with unaffected individuals.
References
Bassett AS, McDonald-McGinn DM, Devriendt K, et al. Practical guidelines for managing patients with 22q11. 2 deletion syndrome. J Pediatr. 2011 Aug;159(2):332-9.e1.
McDonald-McGinn DM, Sullivan KE. Chromosome 22q11. 2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). Medicine (Baltimore). 2011 Jan;90(1):1-18.
McDonald-McGinn DM, Sullivan KE, Marino B, et al. 22q11. 2 deletion syndrome. Nat Rev Dis Primers. 2015 Nov 19;1:15071.
Hoeffding LK, Trabjerg BB, Olsen L, et al. Risk of psychiatric disorders among individuals with 22q11.2 deletion or duplication: a Danish nationwide, register-based study. JAMA Psychiatry. 2017 Mar 1;74(3):282-290.
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.
References
Online Mendelian Inheritance in Man. VATER/VACTERL ASSOCIATION. https://omim.org/entry/192350. Accessed 12/17/2017.
Online Mendelian Inheritance in Man. Treacher-Collins Syndrome. https://omim.org/entry/154500. Accessed 12/17/2017.
Amirhassankhami S, Lloyd MS. Accessory Auricles: Systematic Review of Definition Associated Conditions, and Recommendations for Clinical Practice. J Craniofac Surg. 2017 Dec 12.
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.
References
Yoo D, Kim HJ, Cho KH, et al. Delayed diagnosis of 22q11 deletion syndrome due to late onset hypocalcemia in an 11 year old girl with imperforate anus. 2017. Ann Pediatr Endocrinol Metab; 22:133-138.
Cancrini C, Puliafito P, Digilio MC, et al. Clinical features and follow-up in patients with 22q11.2 deletion syndrome. J Pediatr. 2014 Jun;164(6):1475-80.e2.
An 18-month-old child is brought to the office after undergoing fronto-orbital advancement for metopic craniosynostosis. Which of the following is the earliest age the surgeon can order the x-ray studies and expect to be able to see frontal sinus development?
A) 1 year
B) 2 years
C) 4 years
D) 6 years
E) 10 years
The correct response is Option D.
Frontal sinus development is associated with specific age-related periods of growth of the skull. The frontal sinus is absent at birth and during the initial phase of growth of the skull. The sinus is visible only in x-ray studies at the end of the first period of skull growth. This is the time when the endocranial table of the skull ceases to grow and conforms to the general shape of the brain. This is not seen on x-ray studies until 6 years of age or 72 months.
References
Moore K, Ross A. Frontal sinus development and juvenile age estimation. The Anatomical Record. 2017;300(9):1609-1617.
Verma P, Verma KG, Khosa R, et al. Combined use of frontal sinus and nasal septum patterns as an aid in forensics: A digital radiographic study. North Am J Med Sci. 2015;7:47-52.
A female infant is born with severe Treacher Collins syndrome and bilateral Pruzansky III mandible (absence of condyle). Tracheostomy is performed for respiratory distress. Which of the following surgeries is most likely to allow decannulation?
A) Alloplastic condylar reconstruction
B) Bilateral sagittal split osteotomy
C) Costochondral rib grafts
D) Mandibular distraction
E) Tongue-lip adhesion
The correct response is Option C.
Patients with Treacher Collins syndrome may have a varied presentation. The mandible hypoplasia may be mild or severe. In this case the patient has no temporomandibular fossa or condyles. Tongue-lip adhesion and mandibular distraction are used in severe Pierre Robin sequence. Because of the absence of condyles and temporal mandibular joints, distraction, and sagittal split osteotomy are not the best options. A costochondral graft will provide better airway support and can also be distracted in the future.
References
Flores RL, Tholpady SS, Sati S, et al. The surgical correction of Pierre Robin sequence: mandibular distraction osteogenesis versus tongue-lip adhesion. Plast Reconstr Surg. 2014;133(6):1433–9.
Tahiri Y, Viezel-Mathieu A, Aldekhayel S, et al. The effectiveness of mandibular distraction in improving airway obstruction in the pediatric population. Plast Reconstr Surg. 2014;133(3):352e–359e.
Which of the following statements is correct about Tessier clefts No. 3, No. 4, and No. 5?
A) Tessier No. 3 involves the alveolar ridge, while Tessier No. 5 does not
B) Tessier No. 3 is medial to the infraorbital nerve, while Tessier No. 4 is lateral
C) Tessier No. 3 only affects the oral region, while Tessier No. 4 only affects the orbital region
D) Tessier No. 4 involves the piriform aperture, while Tessier No. 5 does not
E) Tessier No. 4 is medial to the infraorbital nerve, while Tessier No. 5 is lateral
The correct response is Option E.
Tessier No. 3 and No. 4 are medial to the infraorbital nerve, but Tessier No. 5 is lateral.
Tessier No. 3 involves clefts of the nose, orbit, and lip (naso-oral-ocular cleft), whereas Tessier No. 4 involves the lip and orbit (oral-ocular cleft), and the nose is uninvolved.
Tessier No. 5 involves oral, cheek (maxillary sinus), and orbital cleft and is the rarest.
References
Racz C, Dakpe S, Kadlub N, et al. Phenotypic spectrum of Tessier facial cleft number 5. J Cranio-Maxillofac Surg. 2018, 46: 22-27.
Spolyar JL, Hnatiuk M, Shaheen KW, et al. Tessier No. 3 and No. 4 clefts: Sequential treatment in infancy by pre-surgical orthopedic skeletal contraction, comprehensive reconstruction, and novel surgical lengthening of the ala base-canthal distance. J Craniomaxillofac Surg. 2015 Sep;43(7):1261-8.
S. M. Balaji. Two-stage Corrections of Rare Facial Tessier’s Cleft - 3,4,5,6,7. Ann Maxillofac Surg. 2017 Jul-Dec; 7(2): 287–290.
