Premium
Congenital aqueductal stenosis due to downregulation of a dorsalizing gene
Author(s) -
Sarnat Harvey B,
FloresSarnat Laura
Publication year - 2008
Publication title -
the faseb journal
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.709
H-Index - 277
eISSN - 1530-6860
pISSN - 0892-6638
DOI - 10.1096/fasebj.22.1_supplement.59.4
Subject(s) - aqueductal stenosis , holoprosencephaly , anatomy , agenesis , agenesis of the corpus callosum , neural tube , hypoplasia , exencephaly , medicine , hydrocephalus , midbrain , fetus , corpus callosum , biology , central nervous system , surgery , pregnancy , embryo , genetics , teratology , microbiology and biotechnology
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.