距骨-髌骨-舟骨骨质溶解症

定义 英文原文（暂无中文）

Talo-patello-scaphoid osteolysis is an extremely rare form of primary osteolysis, described in two sisters to date, characterized by bilateral osteolysis of the tali, scaphoids, and patellae (accompanied by periarticular swelling and pain) and short fourth metacarpals (brachydactyly type E), in the absence of renal disease. Autosomal recessive inheritance has been suggested.

别名

Singh-Williams-McAlister综合症

基本事实

遗传方式

常染色体隐性

发病年龄

儿童期

患病率

<1 / 1 000 000

临床表型 6

外部标识与链接