下肢畸形-尿道下裂综合征

定义 英文原文（暂无中文）

Lower limb malformation-hypospadias syndrome is a rare developmental defect during embryogenesis characterized by severe, uni- or bilateral lower limb malformations (incl. tibial hypoplasia, split and rocker bottom-shaped feet, and oligosyndactyly), normal upper limbs and hypospadias. Additional dysmorphic features (e.g. short neck and low-set, large ears), atrial septal defect, ureteropelvic junction stenosis and slight septation of the spleen, have also been reported. There have been no further descriptions in the literature since 1977.

别名

Fried-Goldberg-Mundel 综合征

基本事实

发病年龄

新生儿期

患病率

<1 / 1 000 000

临床表型 12

外部标识与链接