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先天性多发性关节挛缩症

Arthrogryposis multiplex congenita.

作者信息

O'Flaherty P

出版信息

Neonatal Netw. 2001 Jun;20(4):13-20. doi: 10.1891/0730-0832.20.4.13.

Abstract

Arthrogryposis multiplex congenita (AMC) is a term that is used to describe the presence of multiple joint contractures at birth. AMC can be seen singularly or in conjunction with other abnormalities. Historically, the term arthrogryposis was used as a disease diagnosis, but it is now clear that AMC is not a disease entity but a syndrome, involving a manifestation of many fetal and neonatal disorders of the neuromuscular system. Its etiology is multifocal, and there is a wide variation in the degree to which muscles and joints are affected. Early identification and implementation of a plan of therapy are essential. The purpose of this article is to provide an overview of the AMC 'syndrome, specifically, clinical features, etiology, diagnosis, therapeutic interventions, family support, and outcomes.

摘要

先天性多发性关节挛缩症(AMC)是一个用于描述出生时存在多个关节挛缩的术语。AMC可单独出现或与其他异常情况同时存在。从历史上看,关节挛缩症一词曾被用作疾病诊断,但现在很清楚,AMC不是一种疾病实体,而是一种综合征,涉及许多胎儿和新生儿神经肌肉系统疾病的表现。其病因是多灶性的,肌肉和关节受影响的程度差异很大。早期识别并实施治疗计划至关重要。本文的目的是概述AMC综合征,具体包括临床特征、病因、诊断、治疗干预、家庭支持和预后。

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