title: Syndrome of cataract, mild microcephaly, mental retardation and Perthes-like changes in sibs.
abstract: Cataract, microcephaly, mental retardation and Perthes-like changes in hips were found in two sibs. This combination of congenital anomalies may be a syndrome of autosomal recessive origin.
authors.affiliation: Department of Human Genetics and Teratology, WHO Collaborating Centre for the Community Control of Hereditary Diseases, National Institute of Hygiene, Budapest, Hungary.
authors.forename: A
authors.initials: A
authors.lastname: Czeizel
authors.forename: R B
authors.initials: RB
authors.lastname: Lowry
mesh_terms: D002386:Cataract / Q000151:congenital / Q000235:genetics*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics*; D007873:Legg-Calve-Perthes Disease / Q000235:genetics*; D008297:Male; D008831:Microcephaly / Q000235:genetics*; D010641:Phenotype; D013577:Syndrome