title: Walker-Warburg syndrome. Case report and literature review.
abstract: 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.
authors.affiliation: Stanley S. Lamm Institute for Child Neurology and Developmental Medicine, Department of Pediatrics, Long Island College Hospital, Brooklyn, NY 11201.
authors.forename: K J
authors.initials: KJ
authors.lastname: Murphy
authors.forename: R
authors.initials: R
authors.lastname: PeBenito
authors.forename: R L
authors.initials: RL
authors.lastname: Storm
authors.forename: C
authors.initials: C
authors.lastname: Ferretti
authors.forename: D P
authors.initials: DP
authors.lastname: Liu
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D001921:Brain / Q000002:abnormalities; D005128:Eye Diseases / Q000150:complications / Q000151:congenital* / Q000175:diagnosis / Q000473:pathology; D005260:Female; D006801:Humans; D006849:Hydrocephalus / Q000150:complications / Q000175:diagnosis; D007231:Infant, Newborn; D009422:Nervous System Diseases / Q000150:complications / Q000151:congenital* / Q000175:diagnosis / Q000473:pathology; D013577:Syndrome; D014057:Tomography, X-Ray Computed