Walker-Warburg syndrome: report of three affected sibs.
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.
Rodgers
B L
BL
Department of Pediatrics, Medical University of South Carolina, Charleston 29425.
Vanner
L V
LV
Pai
G S
GS
Sens
M A
MA
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