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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 21 weeks +2 days of gestation. In vivo and postmortem magnetic resonance revealed corpus callosum agenesis and cerebellar hypoplasia. Cobblestone lissencephaly was observed at post-mortem. Next generation sequencing (NGS) of 193 genes, performed on fetal DNA extracted from amniocytes, detected two heterozygous mutations in the  POMT2  gene. The c.1238G &gt; C p.(Arg413Pro) mutation was paternally inherited and is known to be pathogenic. The c.553G &gt; A p.(Gly185Arg) mutation was maternally inherited and has not been previously described.  Conclusion:  Compound heterozygous mutations in the  POMT2  gene caused a severe cerebral fetal phenotype diagnosed prenatally at midgestation allowing therapeutic pregnancy termination.

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