桡骨缺陷-胫骨发育不全综合征

定义 英文原文（暂无中文）

Radial deficiency-tibial hypoplasia syndrome is a rare, genetic dysostosis syndrome with combined reduction defects of upper and lower limbs characterized by bilateral radial aplasia, absent thumbs and bilateral tibial hypo/aplasia. Additional bone anomalies (including partial toe hypo/aplasia, short fibula and clubhand) may be associated. There have been no further descriptions in the literature since 1996.

基本事实

发病年龄

产前

患病率

<1 / 1 000 000

外部标识与链接