Treacher Collins syndrome with novel ophthalmic findings and visceral anomalies

Treacher Collins syndrome with novel ophthalmic findings and visceral anomalies.

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...

Speech language pathology findings in a Treacher Collins syndrome patient.

BACKGROUND Treacher Collins syndrome (TCS) is a rare disorder with different levels of severity due to congenital head and face abnormalities which affect language, orofacial musculature, voice and breadth, suction, chewing and swallowing functions. AIMS This paper objectifies to report a Treacher Collins syndrome patient, describing phonoaudiological changes that can be found in individuals ...

Treacher Collins syndrome: sinus of Valsalva aneurysm.

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...