身材矮小症，Brussels型

定义 英文原文（暂无中文）

A rare primary bone dysplasia characterized by severe intrauterine and postnatal growth retardation and short stature in association with craniofacial dysmorphism (such as large forehead, triangular face, low-set ears, and micro-retrognathism) and osteochondrodysplastic lesions. Radiographic findings include epiphyseal maturation delay, abnormal metaphyses, a narrow thorax, small pelvis, and short and broad metacarpal bones and phalanges. There have been no further descriptions in the literature since 1996.

别名

Mievis-Verellen-Dumoulin综合征

基本事实

遗传方式

未知

发病年龄

婴儿期、新生儿期

患病率

<1 / 1 000 000

临床表型 10

外部标识与链接