Kalifa G, Adamsbaum C, Job-Deslande C, Dubousset J
Hôpital Saint Vincent de Paul, Paris, France.
Pediatr Radiol. 1993;23(2):91-3. doi: 10.1007/BF02012393.
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.
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。