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先天性多发性关节挛缩症的遗传学方面。

Genetic aspects of arthrogryposis.

作者信息

Hall J G

出版信息

Clin Orthop Relat Res. 1985 Apr(194):44-53.

PMID:3978933
Abstract

Multiple congenital contractures or arthrogryposis is a birth defect that occurs in approximately one in 3000 births. It can be seen in isolation or in association with other abnormalities. The etiologic and genetic basis of multiple congenital contractures is very heterogeneous. In order to understand the genetic basis and natural history of a specific case, a specific diagnosis must be made. Over 150 conditions are known in which multiple congenital contractures are a predominant sign. In this chapter, the emphasis is on a systematic differential diagnosis and consideration of empiric recurrent risk figures if a specific diagnosis cannot be reached.

摘要

多发性先天性挛缩或关节挛缩症是一种出生缺陷,大约每3000例出生中就有1例发生。它可以单独出现,也可与其他异常情况同时存在。多发性先天性挛缩的病因和遗传基础非常复杂。为了了解特定病例的遗传基础和自然病史,必须做出明确的诊断。已知有超过150种疾病,其中多发性先天性挛缩是主要症状。在本章中,如果无法做出明确诊断,重点是进行系统的鉴别诊断并考虑经验性复发风险数据。

相似文献

1
Genetic aspects of arthrogryposis.先天性多发性关节挛缩症的遗传学方面。
Clin Orthop Relat Res. 1985 Apr(194):44-53.
2
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[A fatal autosomal recessive syndrome with multiple congenital contractures].一种伴有多种先天性挛缩的致死性常染色体隐性综合征
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