Cerebro-oculo-facio-skeletal syndrome complicated by congenital ichthyosis.
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.
Suzumura
Hiroshi
H
Department of Pediatrics, Dokkyo University School of Medicine, Japan.
Nitta
Akihisa
A
Arisaka
Osamu
O
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