Treacher-collins syndrome and associated abnormalities. A case report.

Treacher-Collins syndrome or mandibulofacial dysostosis is an autosomal dominant disorder of craniofacial development. In this familial syndrome there is an arrest in the development of the facial bones, manifested by a depression of the malar bones, an antimonogoloid slant of the palpebral fissures, mandibular hypoplasia with retrognathia, coloboma of the lower eyelids and deformities of the ear structures derived from the branchial arches. Frequently, there is external auditory canal atresia and deformity of the pinnae. Other uncommon anomalies include congenital heart defects and cryptorchidism. This study describes a rare case of Treacher-Collins syndrome associated with congenital cardiopathy and megacolon, with a review of the literature.