Ocular findings in a new heritable syndrome of brain, eye, and urogenital abnormalities.
We studied the clinical and histopathologic ocular findings in four related males with a newly recognized syndrome consisting of microphthalmos, microencephaly, mental retardation, agenesis of the corpus callosum, hypospadius, and cryptorchidism with X-linked recessive inheritance. The ocular abnormalities include microphthalmos, corneal pannus and hypoplasia, cataracts, uveal hypoplasia, retinal dysplasia, optic nerve hypoplasia, and congenital blepharoptosis. In case 4, a female twin who died in utero (at 15 weeks' gestation) showed none of the ocular abnormalities.
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D001921:Brain / Q000002:abnormalities*; D002675:Child, Preschool; D005124:Eye Abnormalities; D030342:Genetic Diseases, Inborn / Q000473:pathology; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D013577:Syndrome; D014564:Urogenital Abnormalities