假性早衰综合征

定义 英文原文（暂无中文）

A rare syndromic intellectual deficiency characterized by psychomotor delay, severe progressive spastic quadriplegia, microcephaly, and a Hallerman-Streiff-like phenotype including absence of eyebrows and eyelashes, glaucoma, and small, beaked nose. Structural central nervous system abnormalities (cervical spinal cyst, occipital cranium bifidum occulatum) were additional findings. There have been no further descriptions in the literature since 1974.

别名

眉毛和睫毛缺如-智力障碍综合征

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 20

外部标识与链接