Prenatal phenotype of a homozygous nonsense MPDZ variant in a fetus with severe congenital hydrocephalus
Nathalie Vanden Eynde,
Eve Van den Mooter,
Elise Vantroys
et al.
Abstract:The fetal phenotype of MPDZ‐associated congenital hydrocephalus type 2 with or without brain or eye anomalies (HYC2) (OMIM 615219) is not well described in the literature. The present case shows not previously published clinical fetal features that are detected during routine second trimester ultrasound screening at 21 weeks of gestation such as bilateral ventriculomegaly, lean cavum septum pellucidum, suspicion of hypoplastic corpus callosum, and suspicion of gyration disorder with normal fossa posterior. Com… Show more
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