(A) No. 1
(B) No. 3
(C) No. 5
(D) No. 7
(E) No. 9

Reproduced with permission of Tessier P. Anatomical classification of facial, cranio-facial, and latero-facial clefts. J Maxillofac Surg. 1976;4:69.

The correct response is Option B.

The Tessier classification of craniofacial clefting, which was first proposed in 1973, integrates both tissue findings and underlying skeletal deformities. According to the Tessier system, displacement of the medial canthus of the eyelid is characteristic of the No. 3 cleft. This cleft begins in the alveolus, between the lateral incisor and canine, and extends through the maxilla and into the lacrimal bone. It is often referred to as a “naso-ocular” cleft because the inferomedial wall of the orbit is absent. Other associated soft-tissue deformities include shortening of the nose, colobomas of the nasal alae and the lower eyelids medial to the punctum, obstruction of the nasolacrimal duct, and malformations of the lower canaliculus. The lip deformity is similar to cleft lip.

The Tessier No. 1 cleft lies just lateral to the midline, beginning at the cupid’s bow and passing through the dome of the nostril lateral to the anterior nasal spine. Notching of the alar dome is a distinctive feature. The nasal bone may be absent, but the septum is unaffected. Hypertelorism and encephalocele may also be associated.

The No. 2 cleft is exceedingly rare and may be a transition between the No. 1 and No. 3 clefts.

The Tessier No. 4 cleft passes between the piriform aperture and the infraorbital foramen. It begins lateral to cupid’s bow and the philtrum and then passes lateral to the nasal ala and onto the cheek, terminating in the lower eyelid medial to the punctum. The medial canthal tendon is unaffected.

The rare Tessier No. 5 cleft begins behind the canine and extends through the maxillary sinus to the orbital floor. Colobomas of the lateral lower eyelids and clefting of the upper lip medial to the oral commissure are associated.
The No. 6 cleft is the incomplete form of Treacher Collins syndrome. This cleft passes inferior and lateral to the oral commissure, toward the angle of the mandible. Colobomas of the lateral lower eyelids occur.

The Tessier No. 7 cleft is the most common atypical cleft; it occurs in one of every 3000 births. It has sporadic transmission and highly variable expressivity. The zygomatic arch is typically absent.

The No. 8 cleft extends from the lateral commissure of the palpebral fissure to the temporal region and is also associated with colobomas of the lower eyelids.

The Tessier No. 9 cleft is merely a supraorbital extension of the No. 5 cleft.

References
1. Kawamoto HK. Rare craniofacial clefts. In: McCarthy JG, ed. Plastic Surgery. Philadelphia, Pa: WB Saunders Co; 1990;4:2945-2951.
2. Kawamoto HK Jr. Craniofacial clefts. In: Aston SJ, Beasley RW, Thorne CH, eds. Grabb & Smith’s Plastic Surgery. 5th ed. Philadelphia, Pa: Lippincott-Raven; 1997:349-63.

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.

References
1. Gosain AK, Steele MA, McCarthy JG, et al. A prospective study of the relationship between strabismus and head posture in patients with frontal plagiocephaly. Plast Reconstr Surg. 1996;97:881-891.
2. Greenberg MF, Pollard ZF. Ocular plagiocephaly: ocular torticollis with skull and facial asymmetry. Ophthalmology. 2000;107:173-178.

In the patient who has the findings shown on the three-dimensional CT scans above, which of the following is the most likely diagnosis?

(A) Craniofacial microsomia
(B) Crouzon syndrome
(C) Goldenhar syndrome
(D) Romberg syndrome
(E) Treacher Collins syndrome

The correct response is Option E.

These findings are consistent with Treacher Collins syndrome, also known as mandibulofacial dysostosis or Franceschetti-Klein syndrome. The skeletal deformity seen in the CT scan represents bilateral Tessier No. 6, 7, and 8 clefts. Varying hypoplasia of the zygoma is a differentiating feature of this condition. Occlusion is Angle class II, with an anterior open bite.

There are numerous characteristic findings in patients with Treacher Collins syndrome. The orbit is oval or egg-shaped and has a superomedial base and inferolaterally oriented axis. A cleft in the inferolateral orbital floor allows for herniation of the orbital contents into the cheek. The inferior orbital rim, lateral orbital wall, and orbital floor are underdeveloped or absent. In contrast, the maxilla protrudes, and the palatal plane is rotated counterclockwise or upward and posteriorly. There is micrognathia and decreased length of the mandibular ramus and body, with broad curvature of the inferior aspect of the mandibular body. The condyle is hypoplastic or absent. The gonial angle is obtuse with antegonial notching. The chin is dysplastic, vertically long, and retrusive.

Craniofacial microsomia is typically hemifacial but can occur bilaterally. Hemifacial microsomia is associated with a Tessier No. 7 cleft. There are varying degrees of mandibular hypoplasia. The forehead, orbit, and zygoma may also be hypoplastic. Anophthalmia and microtia occur in the most severe cases. Clefting of the lateral orbit and antegonial notching are not characteristic features.

Crouzon syndrome is a syndrome of bilateral coronal synostosis or acrocephalosyndactyly. Affected patients have retrusion of the forehead and superior orbital rim, proptosis caused by shallow orbits, and midface hypoplasia. Occlusion is Angle class III.

Goldenhar syndrome is a subset of hemifacial microsomia and is characterized by epibulbar dermoids and anomalies of the scapula and/or spine.

Romberg syndrome, or progressive hemifacial atrophy, appears initially as cutaneous pigmentation in otherwise healthy patients but progresses to destruction of the facial soft tissues and skeleton. This is a hemifacial condition that varies in severity.

References
1. Bartlett SP, Losee JE. Mandibulofacial dysostosis. In: Lin KY, Ogle RC, Jane JA, eds. Craniofacial Surgery: Science and Surgical Technique. Philadelphia, Pa: WB Saunders Co; 2002:288.
2. Fink SC, Hardesty RA. Craniofacial syndromes. In: Bentz ML, ed. Pediatric Plastic Surgery. Stamford, Conn: Appleton & Lange; 1998:1.

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.

References
1. Glat PM, McCarthy JG. Distraction of the mandible: experimental studies. In: McCarthy JG, ed. Distraction of the Craniofacial Skeleton. New York, NY: Springer-Verlag; 1999:67-79.
2. Karp NS, McCarthy JG, Schreiber JS, et al. Membranous bone lengthening: a serial histological study. Ann Plast Surg. 1992;29:2-7.

A 15-year-old girl with Apert syndrome has the deformity shown in the photograph and radiograph above. She underwent bifrontal craniotomy with bilateral supraorbital bar advancement at age 9 months. On examination, 25 mm of midface advancement is needed. Which of the following operative procedures is most appropriate?

(A) Monobloc advancement
(B) Le Fort I osteotomy with immediate advancement with bone grafting
(C) Le Fort I osteotomy with advancement by distraction osteogenesis
(D) Le Fort III osteotomy with immediate advancement with bone grafting
(E) Le Fort III osteotomy with advancement by distraction osteogenesis
The correct response is Option E.

In this 15-year-old girl with Apert syndrome who requires 25 mm of midface advancement, the most appropriate management is Le Fort III osteotomy with distraction osteogenesis. Although the forehead and superior orbital bar are positioned appropriately, there is deficiency and retrusion of the midface and malocclusion. Le Fort III osteotomy will correct the midface deficiency and the skeletal portion of the malocclusion. Distraction osteogenesis is preferred over bone grafting for advancement of more than 10 mm because it produces a more stable result that is less prone to relapse and allows for more gradual stretching of the soft-tissue envelope. Distraction osteogenesis is also associated with a lower rate of morbidity and less need for secondary midface procedures when compared with bone grafting.

Monobloc advancement will correct the midface retrusion and malocclusion but will also advance the forehead.

Le Fort I osteotomy and advancement with either bone grafting or distraction osteogenesis will not correct the midface deficiency.

References
1. Chin M, Toth BA. Distraction of the midface. In: McCarthy JG, ed. Distraction of the Craniofacial Skeleton. New York, NY: Springer-Verlag; 1999:349-377.
2. Chin M, Toth BA. Le Fort III advancement with gradual distraction using internal devices. Plast Reconstr Surg. 1997;100:819-832.
3. Cohen SR, Holmes RE, Machado L. Midface distraction. In: Samchukov ML, Cope JB, Cherkashin AM, eds. Craniofacial Distraction Osteogenesis. Saint Louis, Mo: Mosby - Year Book, Inc; 2001:520-530.
4. Gosain AK, Santoro TD, Havlik RJ, et al. Midface distraction following Le Fort III and monobloc osteotomies: problems and solutions. Plast Reconstr Surg. 2002;109:1797-1808.

In infants with hemifacial microsomia, which of the following deformities should be corrected initially?

(A) Abnormalities of the temporomandibular joint abnormalities
(B) Auricular deformities
(C) Deficiency of the mandibular ramus
(D) Deficiency of the mandibular body
(E) Macrostomia

The correct response is Option E.

Hemifacial microsomia is a condition associated with embryologic abnormalities involving the first and second branchial arches, including a Tessier No. 7 cleft. It is characterized by incomplete development of the external and middle ear, mandible, zygoma, maxilla, temporal bone, parotid gland, tongue, and the muscles of the palate and those that control mastication and facial expression. Affected patients have multiple clinical manifestations such as macrostomia, first branchial cleft sinus, and abnormalities of the cranial nerves.

Multiple procedures are necessary to reconstruct the face in patients with hemifacial microsomia. Macrostomia repair should be performed within the first few months after birth, similar to a typical cleft lip repair. Skeletal and soft-tissue repair is indicated at age 5 to 6 years. The mandibular deformities are typically corrected first, followed by the maxillary defects. Correction of soft-tissue deformities is generally delayed until skeletal reconstruction has been completed.

References
1. Polley JW, Figueroa AA, Liou EJ, et al. Longitudinal analysis of mandibular asymmetry in hemifacial microsomia. Plast Reconstr Surg. 1997;99:328-339.
2. Posnick JC. Surgical correction of mandibular hypoplasia in hemifacial microsomia: a personal perspective. J Oral Maxillofac Surg. 1998;56:639-650.

Premature fusion of which of the following sutures is most often associated with abnormalities in the corpus callosum?

(A) Coronal
(B) Lambdoid
(C) Metopic
(D) Squamosal
(E) Sagittal

The correct response is Option C.

Premature fusion of the metopic suture, or trigonocephaly, is most often associated with abnormalities of the corpus callosum or other neurologic structures in the midline of the skull. Agenesis of the corpus callosum is a common abnormality. Children with trigonocephaly also have a higher than expected incidence of developmental delay.

Premature fusion of the coronal, lambdoid, or sagittal sutures is less likely to be associated with underlying neurologic abnormalities. The squamosal suture does not typically fuse prematurely.

References
1. Sidoti EJ Jr, Marsh JL, Marty-Grames L, et al. Long-term studies of metopic synostosis: frequency of cognitive impairment and behavioral disturbances. Plast Reconstr Surg. 1996;97:276-281.
2. Zampino G, DiRocco C, Butera G, et al. Opitz C trigonocephaly syndrome and midline brain anomalies. Amer J Med Genet. 1997;73:484-488.

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.

References
1. Arnaud E, Meneses P, Lajeunie E, et al. Postoperative mental and morphological outcome for nonsyndromic brachycephaly. Plast Reconstr Surg. 2002;110:6-12.
2. Cassileth LB, Bartlett SP, Glat PM, et al. Clinical characteristics of patients with unicoronal synostosis and mutations of fibroblast growth factor receptor 3: a preliminary report. Plast Reconstr Surg. 2001;108:1849-1854.

Which of the following craniofacial anomalies does NOT demonstrate genetic transmission?

(A) Acrocephalosyndactyly
(B) Apert syndrome
(C) Craniofacial microsomia
(D) Mandibulofacial dysostosis
(E) Nager syndrome

The correct response is Option C.

Craniofacial microsomia is the most common major craniofacial anomaly and does not demonstrate genetic transmission. Instead, it is believed to be caused by an intrauterine event, such as occlusion of the stapedial artery or development of hematoma. Craniofacial microsomia is far more likely to be unilateral (hemifacial) than bilateral. It manifests as facial paralysis and malformations of the mandibular ramus. Growth of the mandibular condyle is impaired, resulting in inadequate development of the mandible and the craniofacial osseous complex on the affected side.

Both Apert and Crouzon syndromes, which are syndromes of acrocephalosyndactyly, are inherited as autosomal dominant conditions. Their genetic mutations have been linked to fibroblast growth factor receptor-2 (FGFR-2). These syndromes are characterized by craniosynostosis, exorbitism, and midface retrusion; however, each is differentiated by its associated extremity findings. Patients with Apert syndrome have severe syndactyly of the middle three digits of the hands and feet, often with a common nail. In Crouzon syndrome, the extremities are normal.

Mandibulofacial dysostosis, also known as Treacher Collins syndrome, is an autosomal dominant disorder; its gene has been mapped to chromosome 5q31.3-q33.3. Patients with this condition have facial clefting, an antimongoloid slant to the palpebral fissures, colobomas of the lower eyelids, absence of eyelashes on the medial portion of the lower eyelid, preauricular displacement of hair, malar and mandibular defects, and micrognathia.

Nager syndrome is an autosomal recessive disorder that has facial characteristics similar to Treacher Collins syndrome. Affected patients also have hypoplasia of the thumbs, metacarpals, and radius.

References
1. Bartlett SP, Mackay GJ. Craniosynostosis syndromes. In: Aston SJ, Beasley RW, Thorne CH, eds. Grabb & Smith’s Plastic Surgery. 5th ed. Philadelphia, Pa: Lippincott-Raven; 1997:295-304.
2. McCarthy JG. Craniofacial microsomia. In: Aston SJ, Beasley RW, Thorne CH, eds. Grabb & Smith’s Plastic Surgery. 5th ed. Philadelphia, Pa: Lippincott-Raven; 1997:305-319.
3. McCarthy JG, Grayson BH, Coccaro PJ. Craniofacial microsomia. In: McCarthy JG, ed. Plastic Surgery. Philadelphia, Pa: WB Saunders Co; 1990;4:2491, 3106, 3054-3055.