Blount病

定义 英文原文（暂无中文）

A rare primary bone dysplasia characterized by disordered endochondral ossification of the medial part of the proximal tibial physis leading to multiplanar deformities of the lower limb. Patients present with bow-legged deformity with bone angulation just below the knee which is mostly bilateral. Severe deformity may result in early degenerative arthritis of the knee. It may occur as an isolated condition or as a part of a syndrome. It mostly occurs in infancy, however adolescence-onset patients have also been reported. Risk factors may include obesity and early walking.

别名

胫骨变形性骨软骨病

基本事实

遗传方式

常染色体隐性

发病年龄

儿童期、婴儿期

患病率

Not yet documented

临床表型 5

外部标识与链接