孤立型无脑回畸形/露脑畸形

定义 英文原文（暂无中文）

A rare neural tube defect characterized by the absence of cranial vault and brain structures. This lethal malformation is secondary to a failure to close the anterior neuropore during early embryonic development, leading to exencephaly (''open'' brain). The degeneration of the cerebral tissue is due to their exposure to the amniotic fluid and converts the exencephaly into anencephaly (absence of the brain).

基本事实

遗传方式

多基因/多因素、不适用

发病年龄

婴儿期、新生儿期

患病率

1-5 / 10 000（Europe）

临床表型 2

外部标识与链接