常染色体隐性远端骨质溶解综合征

定义 英文原文（暂无中文）

A rare primary osteolysis characterized by severe distal osteolysis, mild to moderate intellectual deficiency, short stature, and facial dysmorphism (including maxillary hypoplasia, relative exophthalmos, and broad nasal tip). Patients present with early-onset and rapidly progressive osteolysis, manifests as severe resorption abnormalities in the hands and feet with absence of the distal and middle phalanges. Distal ulnar and radial epiphyses may also be affected. Joint limitation and flexion contractures of the elbows and knees have also been reported. There have been no further descriptions in the literature since 1993.

别名

远端骨溶解-身材矮小-智力障碍综合征

基本事实

遗传方式

常染色体隐性

发病年龄

儿童期

临床表型 9

外部标识与链接