一个罕见的屈指畸形家系的遗传学调查

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。 Genetical Investigation on a Rare Genealogy of Congenital Camptodactyly XIA Feng1,CAO Yong-jun1,HONG Zhong-yuan2,LI Mei-ying1,DING Shao-qing1 1.Department of Neurology,Maanshan Municipal People's Hospital of Medical College of Southeast University,Maanshan 243000,China; 2.Life Science College of Chinese Science and Technology University,Hefei 230022,China Abstract: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. Key words：congenital camptodactyly; inherited disease