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关于罕见骨病鉴别诊断的补充评论(作者译)

[Additional comments on the differential diagnosis of rare bone diseases (author's transl)].

作者信息

Engels M, Höger A M

出版信息

Padiatr Padol. 1979;14(1):75-81.

PMID:418998
Abstract

We report about two seldom types of diseases of bones. Both came to our hospital with the diagnosis Osteomyelitis. The first case, the Mafucci-Syndrome, is presented--a systemic Chondrodysplasia with Angiomatosis. This disease is not hereditary. There are found multiple Enchondromas mostly in the longer bones. In 20% the cases of the Mafucci-Syndrome get malignant. The second case shows the Conradi-Hünermann-Syndrome a Chondrodysplasia calcificans congenita, which seems to be hereditary. The characteristic sign is the minor growth of the bones, caused by early deposition of lime in the regions of ossification. Malignity is not described.

摘要

我们报告了两种罕见的骨骼疾病。这两种疾病患者前来我院就诊时均被诊断为骨髓炎。第一个病例是马富西综合征,一种伴有血管瘤病的全身性软骨发育不良。这种疾病不是遗传性的。在长骨中大多发现多个内生软骨瘤。在马富西综合征病例中,20%会发生恶变。第二个病例是康拉迪 - 许纳曼综合征,一种先天性钙化性软骨发育不良,似乎具有遗传性。其特征性体征是骨骼生长迟缓,这是由骨化区域早期钙质沉积所致。未提及有恶变情况。

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