Friede R L
Dev Med Child Neurol. 1978 Dec;20(6):764-72. doi: 10.1111/j.1469-8749.1978.tb15308.x.
Two new cases are reported of a rare syndrome of malformation consisting of occiptal encephalocele, aplasia of the vermis and deformity of the tectum. Less consistent components are aplasia of mammillary bodies, fusion of thalami, anomalies of cerebral gyral patterns, bifid atlas or bifid occipital squame, elevation of torcular, and cervical hydromyelia. One of the present cases had survived to the age of eight years with a ventricular shunt. This syndrome, of which five cases are known, is thought to be a tandem malformation in which either an occipital dysraphia or an encephalocele induces aplasia of the vermis. A classification of aplasias of the cerebellar vermis is proposed.
报告了两例罕见的畸形综合征病例，该综合征包括枕部脑膨出、小脑蚓部发育不全和顶盖畸形。不太常见的组成部分包括乳头体发育不全、丘脑融合、脑回模式异常、寰椎双裂或枕骨鳞部双裂、窦汇抬高和颈段积水性脊髓空洞症。其中一例患者通过脑室分流术存活至8岁。该综合征目前已知有5例，被认为是一种串联畸形，即枕部神经管闭合不全或脑膨出导致小脑蚓部发育不全。本文提出了小脑蚓部发育不全的分类方法。
