Treacher—Colins综合征附2例报告

TREACHER-COLLINS SYNDROME

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。

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.