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Fetal Presentation of Walker-Warburg Syndrome with Compound Heterozygous POMT2 Missense Mutations.

Fetal and pediatric pathology - 1 Apr 2023

Zago Silvia, Silvestri Evelina, Arcangeli Tiziana, Calisesi Marina, Romeo Chiara, Parmeggiani Giulia, Parrini Elena, Cetica Valentina, Guerrini Renzo, Palicelli Andrea, Bonasoni Maria Paola

Abstract excerpt

Background: Walker-Warburg syndrome (WWS) (OMIM #236670) is an autosomal recessive disorder characterized by congenital muscular dystrophy, hydrocephalus, cobblestone lissencephaly, and retinal dysplasia. The main genes involved are: POMT1, POMT2, POMGNT1, FKTN, LARGE1, and FKRP. Case report: We present a fetus with WWS showing at ultrasound severe triventricular hydrocephalus. Pregnancy was legally terminated at...

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PMID: 36048137
DOI: 10.1080/15513815.2022.2116620

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