Review: Treacher Collins Syndrome: A Brief Review on Diagnostic Aids and Review of Literature with a Case Description

Abstract

Importance: Treacher Collins syndrome (TCS), also called Treacher Collins-Franceschetti syndrome or mandibulofacial dysostosis, is an autosomal dominant disorder. This condition affects an estimated 1:10,000 to 1:50,000 of living births. Observations: This paper describes a 19 year old male patient suspected with Treacher Collins syndrome. He displayed a moderate form of the disease and a classic phenotype, demonstrating many cardinal features of the disorder. Conclusion and Relevance: Along with diagnostic aids which are helpful in diagnosing the disease, this paper also reviews the literature and syndrome in the light of recent publications with emphasis on pathogenesis (role of neural crest cells) and broad discussion on the syndrome as a whole.