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先天性多发性关节挛缩症:病因、遗传学、分类、诊断方法及一般情况

Arthrogryposis multiplex congenita: etiology, genetics, classification, diagnostic approach, and general aspects.

作者信息

Hall J G

机构信息

Department of Pediatrics, University of British Columbia, Vancouver, Canada.

出版信息

J Pediatr Orthop B. 1997 Jul;6(3):159-66.

PMID:9260643
Abstract

Arthrogryposis is a sign associated with many specific conditions and syndromes. It is a term used to describe the presence of multiple joint contractures that are present at birth. It can be seen in isolation or in association with other congenital abnormalities as part of a syndrome with or without central nervous system involvement. The exact pathogenesis of arthrogryposis is unknown, but all involve fetal akinesia (decreased fetal movement) with subsequent joint contractures. In this article I describe the causes, genetic aspects, classification, and approach to diagnosis.

摘要

先天性多发性关节挛缩症是一种与许多特定病症和综合征相关的体征。该术语用于描述出生时即存在的多个关节挛缩。它可以单独出现,也可作为伴有或不伴有中枢神经系统受累的综合征的一部分,与其他先天性异常同时出现。先天性多发性关节挛缩症的确切发病机制尚不清楚,但均涉及胎儿运动减少(胎动减少)及随后的关节挛缩。在本文中,我将描述其病因、遗传学方面、分类及诊断方法。

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