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Oto-palato-digital syndrome, type II: evidence for defective intramembranous ossification
T Ogata1, N Matsuo, G Nishimura
1Department of Pediatrics, Keio University School of Medicine, Japan.
American Journal of Medical Genetics
|June 1, 1990
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.