TREACHER COLLINS SYNDROME

- MANDIBULOFACIAL DYSOSTOSIS

Treacher Collins syndrome is an autosomal dominant disorder affecting structures derived from the first branchial arch. There are some reports of prenatal diagnosis (1,2).

1. Ear malformations.
• Bony external ear canal defects.
• Low set ears.
2. Eye malformations.
• Antimongaloid slant of palpebral fissures.
• Notching of the temporal segment of lower eyelids.
• Reduced or absent eye lashes in medial two-thirds of the lower lids.
3. Mandibular malformations.
• Hypoplasia or mandible or malar bones.
• High arched or cleft palate, choanal atresia.

DIFFERENTIAL DIAGNOSIS

1. Goldenhar-Gorlin syndrome.
2. Nagar's acrofacial dysostosis.
3. Otocephaly (Synotia).

REFERENCES

1. Crane JP, Beaver HA. Midtrimester sonographic diagnosis of mandibulofacial dysostosis. Am J Med Genet 1986;25:251-255.
2. Meizner I, Carmi R, Katz M. Prenatal ultrasonographic diagnosis of mandibulofacial dysostosis. J Clin Ultrasound 1991;19:124-129.