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Treacher—Colins综合征附2例报告
引用本文:王保和,杜友红,萧健云.Treacher—Colins综合征附2例报告[J].中国耳鼻咽喉颅底外科杂志,1996(3).
作者姓名:王保和  杜友红  萧健云
作者单位:齐鲁石化公司中心医院耳鼻咽喉科(王保和),湖南省娄底地区医院耳鼻咽喉科(杜友红),湖南医科大学湘雅医院耳鼻咽喉科(萧健云)
摘    要:Treacher-Colins综合征临床并非罕见。在遗传性质方面国内外论著大多将其划归为常染色体显性遗传,但也有报导常染色体隐性遗传者。本文介绍了2例同胞兄弟同患Treacher-Colins综合征病例,并就该病的病因、发病机理、遗传学特性、诊断及治疗等方面进行了讨论。

关 键 词:Treacher-Colins综合征

TREACHER-COLLINS SYNDROME
Wang Baohe,Du Youhong,Xiao Jianyun.TREACHER-COLLINS SYNDROME[J].Chinese Journal of Otorhinolaryngology-skull Base Surgery,1996(3).
Authors:Wang Baohe  Du Youhong  Xiao Jianyun
Institution:Wang Baohe,Du Youhong,Xiao Jianyun Department of Otolaryngology,The Central Hospital of Qilu Petroleum Chemical Industry Company,Zibo,255400
Abstract:Treacher-Collins syndrome (TCS) is not seldom seen in clinic. Although it is commonly considered to be an autosomal dominant heredity disease, there are still a few reports considering it as an autosomal recessive heredity disease. In this paper we reported 2 rare patients of TCS, who are brothers. We also discussed its etiology, etiopathology, heredity characteristics, diagnosis, and treatment.
Keywords:Treacher-Collins Syndrome  
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