Article
COL4A1 mutation-related disorder presenting as fetal intracranial bleeding, hydrocephalus, and polymicrogyria.
Epilepsia open - 1 Mar 2023
Straka Barbora, Vlčková Markéta, Libá Zuzana, Heřmanovská Barbora, Kynčl Martin, Dorňáková Jana, Táborský Jakub, Kršek Pavel, Musilová Alena, Janota Jan, Balaščaková Miroslava
Abstract excerpt
Fetal intracranial hemorrhage represents a rare event with an estimated prevalence of 1:10 000 pregnancies. We report a patient diagnosed prenatally with intracranial hemorrhage and ventriculomegaly carrying a novel, previously unreported, likely pathogenic variant in COL4A1. At the gestational age of 27 weeks, dilation of lateral ventricles was detected during a routine prenatal ultrasound scan, confirmed by...
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