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伴有跗骨融合和指骨短小的遗传性指关节融合症。

Hereditary symphalangism with associated tarsal synostosis and hypophalangism.

作者信息

Castle J E, Bass S, Kanat I O

机构信息

Department of Podiatric Surgery, Kern Hospital, Warren, MI.

出版信息

J Am Podiatr Med Assoc. 1993 Jan;83(1):1-9. doi: 10.7547/87507315-83-1-1.

Abstract

Symphalangism is a rare genetic condition that may represent the earliest documentation of mendelian inheritance in man. The disorder results in interphalangeal joint fusion in the hands and feet. The authors review this rare condition and present a case study consisting of four generations with 15 affected family members. The association of multiple tarsal synostosis and the previously unreported associated occurrence of pedal hypophalangism in this pedigree is presented.

摘要

并指(趾)畸形是一种罕见的遗传性疾病,可能是人类孟德尔遗传最早的记录。这种疾病会导致手和脚的指间关节融合。作者回顾了这种罕见疾病,并呈现了一个包含四代、15名患病家庭成员的病例研究。本文还介绍了该谱系中多个跗骨融合以及此前未报道的足部趾骨发育不全的相关情况。

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