title: Walker-Warburg syndrome: report of three affected sibs.
abstract: Walker-Warburg syndrome (WWS) is a lethal, autosomal recessive disorder characterized by Type II lissencephaly, retinal malformation, cerebellar malformation, and congenital muscular dystrophy. We report on 3 sibs with WWS born to a consanguineous couple. The fetal hydrocephalus associated with this syndrome, while not consistent or necessary for diagnosis, is the key manifestation for its prenatal detection. These sibs illustrate the importance of a careful search for associated malformation(s) in a fetus or newborn infant with hydrocephalus and the potential pitfalls of accurate genetic risk estimation in families of such propositi.
authors.affiliation: Department of Pediatrics, Medical University of South Carolina, Charleston 29425.
authors.forename: B L
authors.initials: BL
authors.lastname: Rodgers
authors.forename: L V
authors.initials: LV
authors.lastname: Vanner
authors.forename: G S
authors.initials: GS
authors.lastname: Pai
authors.forename: M A
authors.initials: MA
authors.lastname: Sens
mesh_terms: D000015:Abnormalities, Multiple / Q000473:pathology*; D000328:Adult; D001921:Brain / Q000002:abnormalities*; D002531:Cerebellum / Q000002:abnormalities; D002540:Cerebral Cortex / Q000002:abnormalities; D005124:Eye Abnormalities; D005260:Female; D005315:Fetal Diseases / Q000000981:diagnostic imaging; D005808:Genes, Recessive; D006801:Humans; D006849:Hydrocephalus / Q000000981:diagnostic imaging*; D007231:Infant, Newborn; D008297:Male; D009136:Muscular Dystrophies / Q000151:congenital*; D011247:Pregnancy; D013577:Syndrome; D014463:Ultrasonography