title: Walker-Warburg syndrome diagnosed by findings of typical ocular abnormalities on prenatal ultrasound.
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.
authors: Department of Pediatric and Fetal Imaging, Rouen University Hospital, Rouen, France. marie.brasseur-daudruy@chu-rouen.fr
authors: M
authors: M
authors: Brasseur-Daudruy
authors: P H
authors: PH
authors: Vivier
authors: V
authors: V
authors: Ickowicz
authors: D
authors: D
authors: Eurin
authors: E
authors: E
authors: Verspyck
mesh_terms: D006801:Humans; D012163:Retinal Detachment / Q000151:congenital* / Q000000981:diagnostic imaging*; D016216:Ultrasonography, Prenatal / Q000379:methods*; D058494:Walker-Warburg Syndrome / Q000000981:diagnostic imaging* / Q000196:embryology*