Journal of Indian Academy of Oral Medicine and Radiology (Jan 2010)
Treacher Collins Syndrome
Abstract
Treacher Collins syndrome is a rare autosomal dominant condition, predominantly affecting the orofacial structures. The incidence varies between 1 in 40,000 to 1 in 70,000 per live births. 40% of the cases have a hereditary factor while 60% are due to genetic mutations. The features include antimongloid slanting of the eyes, deformed or underdeveloped pinna of the ear, retrognathic mandible, microgenia, hypoplasia of the facial bones. In some patients the retrognathic mandible may cause difficulty in breathing and swallowing and may require surgical interventions. The present article describes the clinical features of Treacher Collins syndrome as seen in 3 cases.
