骨盆发育不良-下肢关节挛缩综合征

定义 英文原文（暂无中文）

Pelvic dysplasia-arthrogryposis of lower limbs syndrome is a rare, genetic, dysostosis syndrome characterized by intrauterine growth restriction, short stature (with short lower segment), lower limb joint contractures and muscular hypotrophy, narrow, small pelvis, lumbar hyperlordosis with scoliosis, and foot deformity (short, overlapping toes). Imaging reveals ovoid/wedge-shaped vertebral bodies, pelvic and skeletal hypoplasia with metatarsal fusion in the lower limbs, and normal skull and upper limbs.

别名

Ray-Peterson-Scott综合征

基本事实

遗传方式

常染色体隐性

发病年龄

产前、新生儿期

患病率

<1 / 1 000 000

临床表型 10

外部标识与链接