一个罕见的屈指畸形家系的遗传学调查

Genetical Investigation on a Rare Genealogyof Congenital Camptodactyly

报告一个罕见的常染色体显性遗传病家系的遗传学调查情况,该家系患者主要表现为第Ⅱ、Ⅲ、Ⅳ、Ⅴ指近节指间关节先天性屈曲畸形,功能障碍,部分患者伴有先天性高度近视。

Introduced a rare genealogy of autosomal dominant inheritance disease,which cardinal signs were congenital camptodactyly and functional disturbance of the proximal interphalangeal joints of the Ⅱ,Ⅲ,Ⅳ,Ⅴ fingers.Part cases had congenital high myopia.