Treacher Collins syndrome- a case report and review of literature

Treacher Collins syndrome (TCS) or Franceschetti syndrome is an autosomal dominant disorder of craniofacial development with variable expressivity. It is named after E Treacher Collins who described the essential components of the condition in 1900. Incidence of this syndrome is approximately 1 in 50,000 live births and it affects both genders equally. It affects structures which are derivatives of the first and second brachial arches. The most common manifestations of TCS are the antimongloid slanting of the palpebral fissures, colobomas of the lower eyelid, hypoplasia of zygoma and mandible; and a variety of ear abnormalities. This article describes clinical and radiographic features of TCS in an 18 yr old female who had reported to the department of Oral Medicine and Radiology with the complaint of forwardly placed upper anterior teeth. Also pathogenesis, prenatal diagnosis, differential diagnosis, management and preventive aspects are discussed.