Oto‐palato‐digital syndrome, type II: Evidence for defective intramembranous ossification

5 June 1990

journal article
research article
Published by Wiley in American Journal of Medical Genetics

Vol. 36 (2) , 226-231
https://doi.org/10.1002/ajmg.1320360217

Abstract

We report on a Japanese boy with cto‐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.

Keywords

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