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先天性多发性关节挛缩症患者从何而来?

Whence the arthrogrypotics?

作者信息

Davidson J, Beighton P

出版信息

J Bone Joint Surg Br. 1976 Nov;58-B(4):492-5. doi: 10.1302/0301-620X.58B4.1018038.

Abstract

During the course of a nation-wide survey of patients with bone and joint deformities, twenty-six individuals with arthrogryposis multiplex congenita, in the narrow and precise sense of the term, were investigated. No patient was more than twenty-four years of age. However, on a basis of the figures of population, it can be estimated that 21-0 +/- 6-5 older affected individuals should have been encountered. Furthermore, there was a relative excess of younger children. The series was reasonably unbiased, and as arthrogryposis is non-lethal the deficiency of affected adults is an anomalous finding. It is tentatively suggested that arthrogryposis might result from the intra-uterine influence of an unknown environmental agent which has been present in South Africa for only a limited period of time. Detection of this factor could be an important step in the prevention of the disease.

摘要

在一项全国范围内针对骨与关节畸形患者的调查过程中,对严格意义上的26例先天性多发性关节挛缩症患者进行了研究。没有患者超过24岁。然而,根据人口数据估计,应该会遇到21.0±6.5名年龄较大的患病个体。此外,年幼儿童相对较多。该系列样本基本无偏差,由于关节挛缩症并非致命疾病,成年患者数量不足是一个异常发现。初步推测,关节挛缩症可能是由一种未知环境因素在子宫内的影响导致的,而这种因素在南非仅存在了有限的一段时间。发现这个因素可能是预防该疾病的重要一步。

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