Ophthalmic features and visual prognosis in the Treacher-Collins syndrome.

Treacher Collins Syndrome

Treacher Collins syndrome (TCS) is a genetic disease that alters the development of bones and other tissues in the face, and presents variable expressivity. At least three genes TCOF1, POLR1D, and POLR1C were recognized to be at the origin of this syndrome which may be inherited through either an autosomal dominant or autosomal recessive pattern. TCS changes can be divided into otological, opht...

Orofacial features of Treacher Collins syndrome.

Treacher Collins syndrome (TCS) is a rare autosomal dominant disorder of craniofacial development. Major features include midface hypoplasia, micrognathia, microtia, conductive hearing loss, and cleft palate. The present study is on the orofacial features of 7 Brazilian patients with sporadic TCS aged 4 to 38 years. All patients presented the typical down-slanting palpebral fissures, colobomas,...

Treacher Collins syndrome with novel ophthalmic findings and visceral anomalies.

Treacher Collins syndrome: A case report and review of ophthalmic features

Treacher Collins syndrome is a congenital disorder with bilaterally symmetric anomalies of the structures developing from the first and second branchial arches. The ocular and orbital features are an obligatory component for the diagnosis. We presented a case of typical, complete syndrome and also reviewed the varied ophthalmological manifestations of the disease in the literature. Antimongoloi...

Clinical features, treatment and genetic background of Treacher Collins syndrome.

Treacher Collins syndrome (TCS) is an autosomal dominant disorder of craniofacial development. The major features of the disease include midface hypoplasia, micrognathia, microtia, conductive hearing loss and cleft palate. Current procedures of surgical treatment of TCS are discussed and novel findings concerning the genetic background of TCS are described. The TCS locus has been mapped to chro...