Warburg syndrome

Prenatal

presentation of Walker–Warburg syndrome with a POMT2 mutation: an extended fetal phenotype. Fetus at 20 weeks’ gestational age with ultrasound findings of Walker Warburg syndrome. a Three-dimensional surface rendering of the fetal face showing bilateral microphthalmia and a clenched hand. b Axial US through the orbits showing asymmetric affection with the left eye demonstrating homogeneous opacity of the lens in the left eye consistent with cataract, and the right eye showing echogenic band consistent with hyperplasia of the vitreous chamber. c Axial trans-ventricular plane of the fetal head demonstrating agenesis of corpus callosum, dilatation of the third ventricle, and the anterior and posterior horns of the lateral ventricles. d Axial transcerebellar plane of the fetal head showing cerebellar hypoplasia and vermian agenesis with open fourth ventricle communicating with the cisterna magna and non-expanded posterior fossa. e Fetal echocardiogram demonstrating AVSD (atrial ventricular septal defect). f Coronal US image of multicystic dysplastic kidney (MCDK) showing enlarged kidney with several subcortical small cysts. g Three-dimensional surface rendering mode of lower extremities showing hyperextended knees and bilateral talipus with deformed lower limbs. h Postmortem image confirms the presence of the above findings