Extracraniofacial anomalies in Treacher Collins syndrome: A multicentre study of 248 patients

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 with novel ophthalmic findings and visceral anomalies.

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...

A Case of Treacher Collins Syndrome

Treacher Collins syndrome (TCS) is an autosomal dominant disorder of craniofacial development with an incidence of 1/50,000 live births. Mutations of the TCOF1 gene have been found to be responsible for most cases of this mandibulofacial disorder. Here we report TCS in an individual who has a heterozygous c.1021_1022delAG deletion in exon 7 of the TCOF1 gene (NG_011341.1). This is the second Tu...

A case report of Treacher Collins syndrome.

生下時,医 師に よ り口蓋裂を指摘されてい る.生 後1週 間 目ころ,体 重増加が不 良なため経 静脈栄養を行 ってい たが,哺 乳 困難を きた してい るため生後4週 間 目ころ, 本学小児科へ入院 し経 口栄養に経 鼻 カテーテル栄養を併 用 して体重 のチェッ クを行 い,2週 間ほどで体重増 加が 良好 となったため退院 し,カ テーテル交換 の目的で約1 年間外来通院 していた.な お小児科入院時にTreacher Collins Syndromeと 診断 されている.当 科へは哺乳障 害の改善のため 口蓋形成手術を希望 し来院 した. 現 症: 全身所見:身 長82.0cm,体 重10.8kgで 体格は標準 位2)の 下 限に位置 し,や せ型 でやや栄養不 良の状態であ る.頭 部以外 の体幹,四 肢 には奇形等の異常 は 認 め な い. 顔貌所見:顔 貌は左右...