Mandibulofacial dysostosis (Treacher Collins syndrome): A case report and review of literature

摘要

Treacher Collins syndrome (TCS) or Franceschetti syndrome is an autosomal dominant disorder of craniofacial development with variable phenotypic expression. It presents with characteristic facial appearance enabling it to be easily recognizable. A case of a 10-year-old girl having TCS is briefly described in this article. A review of the etiology, clinical features, differential diagnosis, and treatment options are also discussed.Keywords: Berry's syndrome, mandibulofacial dysostosis, Treacher Collins syndrome