title: Kaufman oculocerebrofacial syndrome: case report.
abstract: The oculocerebrofacial syndrome was described from siblings of both sexes in 1971 by Kaufman. A 12-year-old child with a set of corresponding malformations is described. This would suggest that the original report did not describe a "private" syndrome.
mesh_terms: D003878:Dermatoglyphics; D005124:Eye Abnormalities; D005145:Face / Q000002:abnormalities*; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D010641:Phenotype; D013577:Syndrome