Romain Nicolle, Lucile Boutaud, Laurence Loeuillet, Naima Talhi, Sarah Grotto, Nicolas Bourgon, Agnese Feresin, Aurélie Coussement, Mathilde Barrois, Marie-Paule Beaujard, Thomas Rambaud, Férechté Razavi, Tania Attié-Bitach
Severe ventriculomegaly is a rare congenital brain defect, usually detected in utero, of poor neurodevelopmental prognosis. This ventricular enlargement can be the consequence of different mechanisms: either by a disruption of the cerebrospinal fluid circulation or abnormalities of its production/absorption. The aqueduct stenosis is one of the most frequent causes of obstructive ventriculomegaly, however, fewer than 10 genes have been linked to this condition and molecular bases remain often unknown. We report here 4 fetuses from 2 unrelated families presenting with ventriculomegaly at prenatal ultra-sonography as well as an aqueduct stenosis and skeletal abnormalities as revealed by fetal autopsy...
February 13, 2024: European Journal of Human Genetics: EJHG