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. 2012 Apr;42(4):488-90.
doi: 10.1007/s00247-011-2242-9. Epub 2011 Oct 15.

Walker-Warburg Syndrome Diagnosed by Findings of Typical Ocular Abnormalities on Prenatal Ultrasound

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Walker-Warburg Syndrome Diagnosed by Findings of Typical Ocular Abnormalities on Prenatal Ultrasound

M Brasseur-Daudruy et al. Pediatr Radiol. .

Abstract

Walker-Warburg syndrome (WWS) is a rare, lethal autosomal recessive disorder characterized by congenital muscular dystrophy and brain and eye anomalies. A prenatal finding of hydrocephalus associated with posterior fossa anomalies and/or encephalocele is nonspecific, whereas additional ocular anomalies are typical for WWS. We report a fetus of consanguineous parents found to have encephalocele at US in week 15 of gestation. The parents did not wish to terminate the pregnancy. Follow-up US revealed bilateral abnormal ocular echoic structures suggesting a major form of persistent primary vitreous. WWS was suspected. The POMT2 mutation confirmed this diagnosis. In hydrocephalus associated with posterior fossa anomalies and/or encephalocele, we recommend detailed US examination of the fetal eyes. Ocular anomalies in this context strongly suggest WWS.

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