Walker-Warburg Syndrome: A Case with multiple uncommon features

Walker-Warburg syndrome (WWS) is a rare and lethal autosomal recessive disorder, caused by defective glycosylation of α-dystroglycan that is important for muscle integrity and neuronal migration. Mutations in six genes involved in the glycosylation of α-dystroglycan (POMT1, POMT2, POMGNT1, FCMD, FKRP and LARGE) have been identified in WWS patients, and others remain under study. Prenatal diagnosis may be possible by means of prenatal ultrasonography, or magnetic resonance imaging. We report a patient demonstrating the typical clinical features of lissencephaly, congenital muscular dystrophy and ocular abnormalities, in addition to other features including hydrocephalus, occipital encephalocele, agenesis of the corpus collosum, microphthalmia, ventricular septal defect, and rocker bottom feet deformity.