Denouement and Discussion
Treacher Collins Syndrome
(Mandibulofacial Dysostosis, Franceschetti-Klein Syndrome, First Arch Syndrome)
Manifestations
With rare exceptions the physical findings characteristic of the Treacher Collins syndrome are limited to the face and ears. The eyes show varying degrees of antimongoloid slant. Colobomas, frequently bilateral, are found in the outer half of the lower lid, and the eyelashes in the medial portion of the lower lids may be absent. There is underdevelopment of the facial bones, the maxilla and mandible being most severely affected. The ears are malformed in the great majority of cases with the auricle frequently hypoplastic and the external meatus stenotic or atretic. Located on a line extending from the ear to the angle of the mouth may be found fistulae, skin tags, and flame-shaped projections of hair. Hearing loss secondary to conduction defect is frequently present. The nose may be beaked with narrow nostrils and loss of