A novel familial mutation associated with Treacher Collins syndrome: A case report
نویسندگان
چکیده
منابع مشابه
Treacher Collins syndrome: a case report.
Treacher Collins syndrome is a rare autosomal dominant disorder of craniofacial development. The fully expressed phenotype exhibits characteristic dysmorphic features involving the face, eyes, mandible and ears. We report a case of a 17-year-old woman presenting with the typical orofacial implications of this syndrome.
متن کاملA 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...
متن کاملSamjforum Case Report Penile Agenesis Associated with Treacher Collins Syndrome
Penile agenesis or aphallia is a rare congenital anomaly occurring with a frequency of 1:10 -1:30 million newborns. Fewer than 100 cases have been reported worldwide. Associated urogenital malformations and the presence of oligohydramnios with pulmonary hypoplasia determine the infant's viability. Extra-urogenital anomalies have been described in the cardiovascular, gastro-intestinal and muscul...
متن کاملTreacher Collins syndrome- a case report and review of literature
Treacher Collins syndrome (TCS) or Franceschetti syndrome is an autosomal dominant disorder of craniofacial development with variable expressivity. It is named after E Treacher Collins who described the essential components of the condition in 1900. Incidence of this syndrome is approximately 1 in 50,000 live births and it affects both genders equally. It affects structures which are derivative...
متن کاملMandibulofacial dysostosis (Treacher Collins syndrome): a case report.
Mandibulofacial dysostosis, also known as Treacher Collins syndrome, is a rare congenital anomaly that must be identified in infancy to prevent irrevocable developmental impairment. Information is sparse in the current medical literature concerning this rare syndrome. This article reports a case of Treacher Collins syndrome with the presence of a scarring alopecia and acne keloidalis nuchae, wh...
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ژورنال
عنوان ژورنال: Biomedical Reports
سال: 2020
ISSN: 2049-9434,2049-9442
DOI: 10.3892/br.2020.1284