脑穿通畸形-小脑发育不全-内部结构畸形综合征

定义 英文原文（暂无中文）

Porencephaly-cerebellar hypoplasia-internal malformations syndrome is rare central nervous system malformation syndrome characterized by bilateral porencephaly, absence of the septum pellucidum and cerebellar hypoplasia with absent vermis. Additionally, dysmorphic facial features (hypertelorism, epicanthic folds, high arched palate, prominent metopic suture), macrocephaly, corneal clouding, situs inversus, tetralogy of Fallot, atrial septal defects and/or seizures have been observed.

别名

Bonnemann-Meinecke综合征

基本事实

发病年龄

产前、新生儿期

患病率

<1 / 1 000 000

外部标识与链接