title: Oto-palato-digital syndrome, type II: evidence for defective intramembranous ossification.
abstract: We report on a Japanese boy with oto-palato-digital syndrome type II, an X-linked lethal congenital skeletal dysplasia. The clinical, radiological and histological findings indicate that defective intramembranous ossification may be the principal abnormality responsible for the entity.
authors.affiliation: Department of Pediatrics, Keio University School of Medicine, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Ogata
authors.forename: N
authors.initials: N
authors.lastname: Matsuo
authors.forename: G
authors.initials: G
authors.lastname: Nishimura
authors.forename: H
authors.initials: H
authors.lastname: Hajikano
mesh_terms: D001842:Bone and Bones / Q000002:abnormalities / Q000000981:diagnostic imaging; D005532:Foot Deformities, Congenital / Q000150:complications / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D008040:Genetic Linkage; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009056:Mouth Abnormalities / Q000150:complications / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D009999:Ossification, Heterotopic / Q000235:genetics*; D011859:Radiography; D013577:Syndrome; D014960:X Chromosome