title: Kaufman oculocerebrofacial syndrome in a girl of 15 years.
abstract: Kaufman oculocerebrofacial syndrome (KOS) is a rare autosomal recessive disorder characterized by severe mental retardation, microcephaly, long narrow face, ocular anomalies, and long thin hands and feet. To our knowledge only 8 cases have been reported so far, diagnosed at a mean age of 10 years. We report on a girl who was diagnosed at 15 years. Further phenotypic delineation is needed to improve diagnosis of this syndrome early in life.
authors.affiliation: Laboratorio di Citogenetica, Istituti Clinici di Perfezionamento, Milan, Italy.
authors.forename: V
authors.initials: V
authors.lastname: Briscioli
authors.forename: S
authors.initials: S
authors.lastname: Manoukian
authors.forename: A
authors.initials: A
authors.lastname: Selicorni
authors.forename: E
authors.initials: E
authors.lastname: Livini
authors.forename: F
authors.initials: F
authors.lastname: Lalatta
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D002648:Child; D005124:Eye Abnormalities / Q000175:diagnosis / Q000235:genetics*; D005147:Facial Bones / Q000002:abnormalities* / Q000000981:diagnostic imaging; D005260:Female; D005532:Foot Deformities, Congenital / Q000175:diagnosis / Q000235:genetics*; D005808:Genes, Recessive; D006228:Hand Deformities, Congenital / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008297:Male; D010641:Phenotype; D011859:Radiography; D013577:Syndrome