Walker-Warburg syndrome. Case report and literature review

The Walker-Warburg syndrome (WWS) is a fatal dysmorphic disorder of unknown etiology, but strongly suggests an autosomal recessive mode of inheritance. It is characterized by severe congenital oculo-cerebral malformations (lissencephaly, congenital hydrocephalus, and ocular lesions). The authors report a case of WWS that occurred in a consanguineous union, with a review of the literature. Possible pathogenesis, and disorders sharing the features of WWS are discussed. Families-at-risk for WWS should be identified for prenatal diagnosis and for genetic counselling.