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June 26, 1972

Familial Osteodysplasia

Author Affiliations

From the Oral Medicine and Surgery Branch, National Institute of Dental Research (Drs. Anderson, Coccaro, Coro, and Bosma), and the Department of Diagnostic Radiology (Dr. Cook), National Institutes of Health, Bethesda, Md. Dr. Anderson is now with Robert Breck Brigham Hospital, Boston. Dr. Coccaro is now with the Institute of Plastic and Reconstructive Surgery, School of Medicine, New York University, New York.

JAMA. 1972;220(13):1687-1693. doi:10.1001/jama.1972.03200130021004

Unique abnormalities of bone, especially of the craniofacial skeleton, were found in a young woman with recurrent mandibular fractures and in three of her four sibs. The sibship was the product of a consanguineous marriage. Compared to other genetic disorders of the face, the anatomic defect in these sibs was highly specific for bone. This new syndrome, named "familial osteodysplasia," had an apparent autosomal recessive pattern of inheritance.