Prenatal diagnosis of retinal detachment in Walker-Warburg syndrome.
Lissencephaly, hydrocephalus, and eye abnormalities characterize patients with the Walker-Warburg syndrome, an uncommon autosomal recessive condition. Encephaloceles occur in about 50% of patients. We describe the prenatal diagnosis of this condition based on the ultrasonographic findings of retinal detachment, hydrocephalus, and an encephalocele in a fetus not known to be at risk.
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D004677:Encephalocele / Q000175:diagnosis* / Q000235:genetics; D005124:Eye Abnormalities; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis* / Q000235:genetics; D005808:Genes, Recessive; D006801:Humans; D006849:Hydrocephalus / Q000175:diagnosis* / Q000235:genetics; D007231:Infant, Newborn; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012163:Retinal Detachment / Q000175:diagnosis* / Q000235:genetics; D013577:Syndrome; D014463:Ultrasonography