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多发性骨骺发育不良:一项家族研究。

Multiple epiphyseal dysplasia: a family study.

作者信息

Gibson T, Highton J

出版信息

Rheumatol Rehabil. 1979 Nov;18(4):239-42. doi: 10.1093/rheumatology/18.4.239.

Abstract

Three generations of a single family exhibited evidence of multiple epiphyseal dysplasia. The distribution of involvement was entirely consistent with an autosomal dominant mode of inheritance. The family was characterized by premature osteoarthrosis of the hips developing in adolescence or early adulthood. In most patients there were no obvious signs of an underlying anomaly and the diagnosis was not recognized for a long time. Eventual diagnosis of the disorder allowed easy genetic counselling.

摘要

一个家族的三代人都表现出多发性骨骺发育不良的迹象。受累情况的分布完全符合常染色体显性遗传模式。该家族的特征是在青春期或成年早期出现髋关节过早骨关节炎。大多数患者没有明显的潜在异常迹象,很长一段时间都未确诊。最终对该疾病的诊断使得遗传咨询变得容易。

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