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点状软骨发育异常(作者译)

[Chondroplasia punctata (author's transl)].

作者信息

Koischwitz D, Anders G

出版信息

Rofo. 1980 Jun;132(6):689-94. doi: 10.1055/s-2008-1056644.

Abstract

The rare condition of chondroplasia punctata is illustrated by two patients. The very different manifestation and course of the disease in these two patients confirms Spranger et al's (1971) view that it is an heterogeneous disease which can be divided into two types. The rhizomelic type is characterised by well marked punctate cartilage calcification, shortening of the extremities, deformities of the metaphyses and epiphyses, frequent cataracts and a fatal outcome. In the Conradi-Hünermann-type the changes are less marked and the patients may survive. In order to classify the disease correctly, radiological examination in early childhood is desirable.

摘要

两名患者展现了罕见的点状软骨发育异常病症。这两名患者截然不同的病症表现及病程证实了施普朗格等人(1971年)的观点,即这是一种可分为两种类型的异质性疾病。肢根型的特征是明显的点状软骨钙化、肢体缩短、干骺端和骨骺畸形、频繁出现白内障以及致命的结局。在康拉迪 - 许纳曼型中,变化则不那么明显,患者可能存活。为了正确对该疾病进行分类,儿童早期进行放射学检查是很有必要的。

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