小头畸形-大脑缺陷-痉挛状态-高钠血症综合征

定义 英文原文（暂无中文）

Microcephaly-brain defect-spasticity-hypernatremia syndrome is a rare congenital genetic syndrome with a central nervous system malformation as a major feature characterized by microcephaly, hypertonia, developmental delay and cognitive impairment, swallowing difficulty, hypernatremia, and hypoplasia of the frontal parts and fusion of the lateral ventricles on brain MRI. There have been no further descriptions in the literature since 1986.

别名

Franek-Bocker-Kahlen 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 6

外部标识与链接