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进行性骨化性纤维发育不良和滑膜软骨瘤病。

Fibrodysplasia ossificans progressiva and synovial chondromatosis.

作者信息

Kalifa G, Adamsbaum C, Job-Deslande C, Dubousset J

机构信息

Hôpital Saint Vincent de Paul, Paris, France.

出版信息

Pediatr Radiol. 1993;23(2):91-3. doi: 10.1007/BF02012393.

Abstract

Two cases of an unusual association-fibrodysplasia ossificans progressiva and synovial chondromatosis-in non-related children are presented. This association does not seem coincidental and raises several questions about the pathogenesis. A genetic hypothesis related to G proteins is proposed. This is supported by the fact that such abnormalities have been demonstrated in pseudohypoparathyroidism and fibrous dysplasia; these diseases can also be associated with fibrodysplasia ossificans progressiva.

摘要

本文报告了两例非亲属儿童中出现的罕见关联——进行性骨化性纤维发育不良和滑膜软骨瘤病。这种关联似乎并非偶然,引发了关于发病机制的几个问题。提出了一种与G蛋白相关的遗传假说。假性甲状旁腺功能减退症和骨纤维发育不良中已证实存在此类异常,这支持了该假说;这些疾病也可能与进行性骨化性纤维发育不良相关。

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