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家族性干骺端发育异常的放射学表现。

The radiological appearances of familial metaphyseal dysplasia.

作者信息

Shibuya H, Suzuki S, Okuyama T, Yukawa Y

出版信息

Clin Radiol. 1982 Jul;33(4):439-44. doi: 10.1016/s0009-9260(82)80314-0.

Abstract

Familial metaphyseal dysplasia (FMD) is a rare genetical conditional characterised by symmetrical metaphyseal splaying of the tubular bones. The diagnosis of FMD was made in four patients from two families in Japan; abnormal modelling defects were observed in the flat bones as well as tubular bones in some of the patients. In addition, quantitative measurement of the mineral content of the bone was carried out and was found to be one-quarter of the normal value.

摘要

家族性干骺端发育异常(FMD)是一种罕见的遗传性疾病,其特征为管状骨干骺端呈对称性增宽。在日本,两个家族的四名患者被诊断为FMD;部分患者的扁骨以及管状骨中观察到了异常的塑形缺陷。此外,还对骨矿物质含量进行了定量测量,结果发现仅为正常值的四分之一。

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