桡侧列发育不全-后鼻孔综合征

定义 英文原文（暂无中文）

A rare nose and cavum anomaly characterized by variable defects of the radial ray, concurrent choanal malformations and esotropia. Patients predominantly present with left radial ray hypoplasia, however the spectrum of radial ray involvement may range from totally absent radius, first metacarpal, and phalangeal bones to hypoplastic carpal and metacarpal bones and a triphalangeal thumb. There have been no further descriptions in the literature since 1987.

别名

Goldblatt-Viljoen综合征

基本事实

遗传方式

常染色体显性

发病年龄

婴儿期、新生儿期

患病率

<1 / 1 000 000

外部标识与链接