Hydrocephalus, agyria, pseudoencephalocele, retinal dysplasia, and anterior chamber anomalies.
An infant presenting with hydrocephalus, pseudoencephalocele, agyria, and ocular defects, consisting of anterior chamber anomalies and retinal dysplasia, is reported. This is thought to be a further case of an autosomal recessive syndrome of which six cases have been previously described.
D001921:Brain / Q000002:abnormalities* / Q000473:pathology; D005260:Female; D006801:Humans; D006849:Hydrocephalus / Q000235:genetics* / Q000473:pathology; D007231:Infant, Newborn; D012160:Retina / Q000473:pathology; D012162:Retinal Degeneration / Q000235:genetics*; D013577:Syndrome