Abstract
Congenital aqueductal stenosis is a frequent cause of fetal hydrocephalus. We studied 9 human fetuses at midgestation with aqueductal stenosis for clues to etiology. Two had holoprosencephaly. Associated dysgeneses in all 9 included hypoplasia or agenesis of the corpus callosum; hippocampal and cerebellar dysplasias; absence of the dorsal median septum, confirmed by vimentin. The sagittal intercollicular fissure was absent or shallow with collicular continuity across the midline. In 2 cases, only the rostral mesencephalon was involved. These findings suggest downregulation of a gene acting in the dorsoventral gradient of the vertical axis of the neural tube, and also in rostrocaudal and mediolateral gradients.
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