Currarino syndrome shown by prenatal onset ventriculomegaly and spinal dysraphism.


The most frequent cause of ventriculomegaly is spina bifida when associated with Arnold-Chiari type II malformation. We report on a prenatal diagnosis of severe ventriculomegaly in association with spinal dysraphism that was indicative of a Currarino syndrome (CS) due to a c.584delA, p.H195fsX28 truncated mutation within the HLXB9 gene. Physiopathology of… (More)


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