Abstract

TREACHER COLLINS SYNDROME: A RARE CASE REPORT

Sowmya Hemanthakumar*, K. Saraswathi Gopal and V. Poongodi Selvaraj

ABSTRACT

Treacher Collins syndrome (TCS), otherwise known as mandibulofacial dysostosis, is an autosomal dominant disorder affecting the development of structures derived from the first and second brachial arches during early embryonic development. The estimated incidence of TCS ranges from 1:40,000 to 1:70,000 of live births. Early descriptions were given by Berry (1889), Treacher Collins (1900), and Franceschetti and Klein (1949), and hence the names Berry’s syndrome and Franceschetti - Zwahlen-Klein syndrome. TCS is associated with a mutation in either of the 3 genes: TCOF1, POLR1C or POLR1D. Common manifestations include antimongoloid palpebral fissures, malar hypoplasia, mandibular hypoplasia, malformation of auricular pinna, coloboma of the lower eyelids, conductive deafness, and cleft palate are among the most frequent clinical presentations.[1]

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