Mild Form of Treacher Collins Syndrome Imitating Juvenile Otosclerosis

Mild Form of Treacher Collins Syndrome Imitating Juvenile Otosclerosis

Treacher Collins syndrome (TCS) is an inherited developmental disorder. More than 40% of individuals with TCS have conductive hearing loss attributed to external and middle ear anomalies. Mild cases of TCS often pass undiagnosed at birth or early childhood. The disease may be manifested as conductive hearing loss in teenagers and may resemble juvenile otosclerosis. Patients could suffer from sl...

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...

Treacher Collins syndrome: sinus of Valsalva aneurysm.

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,...

Ear surgery in Treacher Collins syndrome.

The autosomal dominant hereditary Treacher Collins syndrome manifests itself phenotypically in dysmorphogenesis of particularly the first, but also the second branchial arch system. Consequently, 50% of patients with Treacher Collins syndrome have a congenital, generally pure conductive hearing loss resulting from a major or minor ear anomaly. The outcome of surgery to improve patients' hearing...