(A) No. 0
(B) No. 3
(C) No. 4
(D) No. 6
(E) No. 7

PHOTO

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 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.

References
1. Kawamoto HK Jr. Craniofacial clefts. In: Aston SJ, Beasley RW, Thorne CH, eds. Grabb & Smith's Plastic Surgery. 5th ed. Philadelphia, Pa: Lippincott-Raven; 1997:349-363.
2. Kawamoto HK Jr. Rare craniofacial clefts. In: McCarthy JG, ed. Plastic Surgery. Philadelphia, Pa: WB Saunders Co; 1990;4:2945-2951.
3. Tessier P. Anatomical classification of facial, craniofacial and latero-facial clefts. J Maxillofac Surg. 1969;4:69.

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.

References
1. Longaker MT, Siebert JW. Microvascular free-flap correction of severe hemifacial atrophy. Plast Reconstr Surg. 1995;96:800-809.
2. Ruff GL. Progressive hemifacial atrophy: Romberg's disease. In: McCarthy JG, ed. Plastic Surgery. Philadelphia, Pa: WB Saunders Co; 1990;5:3135-3143.

Which of the following substances has been shown to be associated with the mechanisms of cranial suture fusion in animal models?

(A) Epidermal growth factor (EGF)
(B) Interleukin-6 (IL-6)
(C) Prostaglandin-E2 (PGE2)
(D) Transforming growth factor-beta (TGF-B)
(E) Tumor necrosis factor-alpha (TNF-B)

The correct response is Option D.

Although the mechanisms of action resulting in premature fusion of cranial sutures, or craniosynostosis, are unknown, experimental animal studies have shown that transforming growth factor-beta (TGF-B) plays a role in the fusion of posterior frontal sutures. According to immunolocalization techniques, certain isoforms of TGF-B are expressed during fusion of posterior frontal sutures in rat and mouse models; increased immunoreactivity of isoforms of both TGF-B and insulin-like growth factor (IGF) has also been shown to occur during premature fusion of the sagittal, coronal, and lambdoid sutures in humans. Qualitative analysis of TGF-B protein levels in organ culture models has also demonstrated increased levels of TGF-B during the period of active suture fusion.

Although basic fibroblast growth factor (b-FGF) has also been implicated in the process of cranial suture fusion, epidermal growth factor (EGF) has not been shown to be associated with suture fusion. Interleukin-6 (IL-6), prostaglandin-E2 (PGE2), and tumor necrosis factor-alpha (TNF-B) have been shown to mediate inflammatory responses but not to affect cranial suture fusion.

References
1. Opperman LA, Nolen AA, Ogle RC. TGF-beta 1, TGF-beta 2, and TGF-beta 3 exhibit distinct patterns of expression during cranial suture formation and obliteration in vivo and in vitro. J Bone Miner Res. 1997;12:301.
2. Roth DA, Gold LI, Han VK, et al. Immunolocalization of transforming growth factor beta 1, beta 2, and beta 3 and insulin-like growth factor I in premature cranial suture fusion. Plast Reconstr Surg. 1997;99:300-309.
3. Roth DA, Longaker MT, McCarthy JG, et al. Studies in cranial suture biology: part I. Increased immunoreactivity for TGF-beta isoforms (beta 1, beta 2, and beta 3) during rat cranial suture fusion. J Bone Miner Res. 1997;12:311.

The anterior fontanelle typically closes completely at how many months of age?

(A) 3
(B) 9
(C) 12
(D) 24
(E) 36

The correct response is Option D.

The fontanelles are nonossified membranous intervals in the skull located at the angles of the parietal bones in infants. The anterior and posterior fontanelles are located in the midline, and the anterolateral (sphenoid) and posterolateral (mastoid) fontanelles are found laterally.

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

References
1. Clemente C. Anatomy: A Regional Atlas of the Human Body. 2nd ed. Baltimore, Md: Urban & Schwarzenberg; 1981.
2. Moore KL. The Developing Human. 4th ed. Philadelphia, Pa: WB Saunders Co; 1988:170-206.

Which of the following is the most common craniofacial anomaly?

(A) Bilateral craniofacial microsomia
(B) Goldenhar syndrome
(C) Hemifacial microsomia
(D) Nager syndrome
(E) Treacher Collins syndrome

The correct response is Option C.

Hemifacial microsomia is the most common craniofacial anomaly; affected patients have unilateral malformations of the mandibular ramus and facial paralysis. Mandibular growth is impaired, leading to inadequate development of the mandibular and osseous complex on the involved side.

Bilateral craniofacial microsomia is less frequent than hemifacial microsomia.

Goldenhar syndrome, a variant of hemifacial microsomia, is characterized by vertebral or hemivertebral anomalies, lipodermoids, and epibulbar dermoids. The facial abnormalities resemble a Tessier No. 7 cleft. This condition may be bilateral.

Nager syndrome is an autosomal recessive disorder that manifests as hypoplasia of the orbits, zygoma, maxilla, mandible, and soft palate, as well as hypoplasia or agenesis of the radius, thumbs, and metacarpals. Auricular defects may also be associated.

Treacher Collins syndrome is an autosomal dominant disorder that involves hypoplasia of the zygoma, maxilla, and mandible. The palpebral fissures have an antimongoloid slant and the lashes of the medial lower eyelids are absent. Colobomas of the lower eyelids and malar defects are also associated. The preauricular hair may be displaced, and micrognathia may be present. Findings are similar to the Tessier No. 6, No. 7, and No. 8 clefts.
References
1. Johnston MC. Embryology of the head and neck. In: McCarthy JG, ed. Plastic Surgery. Philadelphia, Pa: WB Saunders Co; 1990;4:2491.
2. McCarthy JG, Epstein FJ, Wood-Smith D. Craniosynostosis. In: McCarthy JG, ed. Plastic Surgery. Philadelphia, Pa: WB Saunders Co; 1990;4:3054-3055.
3. Munro IR, Kay PP, Randall P, et al. Craniofacial syndromes. In: McCarthy JG, ed. Plastic Surgery. Philadelphia, Pa: WB Saunders Co; 1990;4:3106.

A 5-year-old boy has marked malar hypoplasia, a class II anterior open bite, and clockwise rotation of the occlusal plane. There is hypoplasia of the thumbs bilaterally. Which of the following is the most likely diagnosis?

(A) Bilateral craniofacial microsomia
(B) Goldenhar syndrome
(C) Klippel-Feil syndrome
(D) Nager syndrome
(E) Treacher Collins syndrome

The correct response is Option D.

This child has findings most consistent with Nager syndrome, or acrofacial dysostosis, an autosomal recessive disorder characterized by hypoplasia of the orbits, zygoma, maxilla, mandible, and soft palate. Although the findings are similar to Treacher Collins syndrome (an autosomal dominant disorder), patients with Nager syndrome can also exhibit preaxial limb anomalies and mental retardation. Auricular defects may be present.

Patients with bilateral craniofacial microsomia typically have hypoplasia of the mandibular ramus and varying degrees of auricular hypoplasia. Patients with Goldenhar syndrome have hemifacial microsomia and epibulbar dermoids.
Klippel-Feil syndrome is characterized by significant fusion of the cervical spine with varying involvement of the thoracic and lumbar spinal regions. Affected patients have limited cervical motion and a low posterior hairline.

References
1. Fuente del Campo A, Martinez Elizondo M, Arnaud E. Treacher Collins syndrome (mandibulofacial dysostosis). Clin Plast Surg. 1994;21:613-623.
2. Posnick JC. Treacher Collins syndrome. In: Aston SJ, Beasley RW, Thorne CH, eds. Grabb & Smith's Plastic Surgery. 5th ed. Philadelphia, Pa: Lippincott-Raven; 1997:313-319.