Oto-palato-digital syndrome, type II: evidence for defective intramembranous ossification.
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.
Ogata
T
T
Department of Pediatrics, Keio University School of Medicine, Japan.
Matsuo
N
N
Nishimura
G
G
Hajikano
H
H
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