Walker-Warburg syndrome with cleft lip and cleft palate in two sibs.
Two sibs are reported with Walker-Warburg syndrome including hydrocephalus, agyria, anterior chamber dysgenesis, and encephalocele. In addition, both had cleft lip and cleft palate and intrauterine growth retardation, findings not previously noted in this condition.
D000015:Abnormalities, Multiple / Q000235:genetics*; D001921:Brain / Q000002:abnormalities*; D002971:Cleft Lip / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics*; D004677:Encephalocele / Q000235:genetics; D005260:Female; D005317:Fetal Growth Retardation / Q000235:genetics*; D006801:Humans; D006849:Hydrocephalus / Q000235:genetics; D007231:Infant, Newborn; D008297:Male; D011247:Pregnancy; D013577:Syndrome