致死性面-心发育不良

定义 英文原文（暂无中文）

A rare multiple congenital anomalies/dysmorphic syndrome characterized by polyhydramnios, low birth weight, dwarfism, limb anomalies (including hypoplasia of the radius and ulna with radial deviation of the hands, simian creases and hypoplasia of fingers I and V, hypoplasia of the fibula and tibia with talipes and wide space between toes I and II) dysmorphic features (including epicanthal folds, abnormal ears, microretrognathia, microstomia, microglossia, glossoptosis and webbed neck) and severe cardiac defects with a rapid fatal course. There have been no further descriptions in the literature since 1975.

基本事实

遗传方式

常染色体隐性

发病年龄

新生儿期

患病率

<1 / 1 000 000

临床表型 15

外部标识与链接