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J Med Genet. Feb 1980; 17(1): 53–56.
PMCID: PMC1048490

Frontometaphyseal dysplasia: autosomal dominant or X-linked?

Abstract

The clinical and radiographic manifestations in a 45-year-old male with frontometaphyseal dysplasia (FMD) are documented and depicted. Deafness and degenerative osteoarthropathy in weight-bearing joints were the main clinical problems. Widespread patchy cranial sclerosis was reminiscent of Paget's disease, while digital deformity resembled rheumatoid arthritis. On the basis of a review and tabulation of published reports, evidence emerges to support the concept of X-linked inheritance. The relationship between FMD and osteodysplasty remains a matter for speculation.

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Selected References

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