顶股骨发育不良
基因病名称(英)
Acrocapitofemoral dysplasia
统计
reviewed:1; annotated:0
交叉引用
607778,C1843096,D001848,D017880
描述(英)
An autosomal recessive disorder characterized by short stature of variable severity with postnatal onset. The most constant radiographic abnormalities are observed in the tubular bones of the hands and in the proximal part of the femur. Cone-shaped epiphyses or a similar epiphyseal configuration with premature epimetaphyseal fusion result in shortening of the skeletal components involved. Cone-shaped epiphyses are also present to a variable extent at the shoulders, knees and ankles.
描述
一种常染色体隐性遗传疾病，其特点是身材矮小，严重程度不一，出生后发病。在手的管状骨和股骨的近端部分观察到最常见的放射学异常。锥形骨骺或类似骨骺结构与骨骺过早融合导致相关骨骼成分缩短。肩部、膝盖和脚踝处也不同程度地存在锥形骨骺。