title: Cerebro-oculo-facio-skeletal syndrome complicated by congenital ichthyosis.
abstract: We report a male patient with typical features of cerebro-oculo-facio-skeletal syndrome, diagnosed on the basis of the characteristic facies, joint contractures and microcephaly, but complicated by congenital ichthyosis on his face, trunk and limbs.
authors.affiliation: Department of Pediatrics, Dokkyo University School of Medicine, Japan.
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Suzumura
authors.forename: Akihisa
authors.initials: A
authors.lastname: Nitta
authors.forename: Osamu
authors.initials: O
authors.lastname: Arisaka
mesh_terms: D041321:Chromosomes, Human, X / Q000235:genetics; D041322:Chromosomes, Human, Y / Q000235:genetics; D006801:Humans; D016113:Ichthyosiform Erythroderma, Congenital / Q000150:complications / Q000235:genetics / Q000473:pathology; D007231:Infant, Newborn; D008297:Male; D009139:Musculoskeletal Abnormalities / Q000150:complications / Q000235:genetics / Q000473:pathology*; D013577:Syndrome