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伴有肢体远端受累的家族性关节挛缩症。

Familial arthrogryposis with distal involvement of the limbs.

作者信息

Kasai T, Oki T, Osuga T, Nogami H

出版信息

Clin Orthop Relat Res. 1982 Jun(166):182-4.

PMID:7083669
Abstract

Five cases of arthrogryposis multiplex congenita in two families characterized by autosomal dominant inheritance, intrafamilial variability and primary involvement of the distal part of the limbs were analyzed to suggest that this condition is comparable to previously reported cases classified as distal arthrogryposis or digitotalar dysmorphism. These patients may represent a specific clinical entity. Heritable disorders should be distinguished from other forms of arthrogryposis for purposes of genetic counseling as well as therapeutic management.

摘要

对两个家族中5例常染色体显性遗传、家族内变异性以及以肢体远端部分原发性受累为特征的先天性多发性关节挛缩症病例进行了分析,结果表明这种病症与先前报道的归类为远端关节挛缩症或指距骨发育异常的病例相似。这些患者可能代表一种特定的临床实体。为了进行遗传咨询以及治疗管理,遗传性疾病应与其他形式的关节挛缩症相区分。

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