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Oto-palato-digital syndrome, type II: evidence for
defective intramembranous ossification.

Ogata T, Matsuo N, Nishimura G, Hajikano H.

Department of Pediatrics, Keio University School of Medicine, Japan.

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

PMID: 2114799 [PubMed - indexed for MEDLINE]