Resumo

MOLLINEDO PATZI, Marcela Andrea  e  QUISBERT AQUIZE, Irina Jhandir. SINDROME DE TREACHER COLLINS (STC). Rev. Act. Clin. Med [online]. 2014, vol.46, pp. 2437-2441. ISSN 2304-3768.

Treacher Collins syndrome is a genetic disorder caused by a mutation character of TCOF1, POLR1C POLR1 genes and, having been first described in 1846 by Thompson and Toynbee, and in 1900 was Edward Treacher Collins who described its main manifestations and assigned him the name which is familiar with this syndrome. The clinical picture presented by the STC is characterized by an abnormality in the development of bilateral facial and cranial structures, presenting hypoplasia of zygomatic bone and the mandible, impaired hearing due to malformation of the ears and ear canals, alterations dental, vision problems, in language, as in breathing and swallowing, which can become life threatening according to gravity. Treacher Collins syndrome has no cure, but the clinical manifestations that the patient can be treated early, avoiding complications

Palavras-chave : Treacher Collins syndrome; mandibulofacial dysostosis; genetic mutation; The Berry-Franceschetti-Klein symdrom.