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Journal of Bone and Joint Surgery, 1973;55:1465-1479.
© 1973 by The Journal of Bone and Joint Surgery, Inc

Maffucci's Syndrome: Functional and Neoplastic Significance

CASE REPORT AND REVIEW OF THE LITERATURE

RANDALL J. LEWIS M.D.1 and ALFRED S. KETCHAM M.D.1

1 From the Surgery Branch, National Cancer Institute, National Institutes of Health, Bethesda

Maffucci's syndrome is a congenital, non-hereditary mesodermal dysplasia manifested by multiple enchondromas and hemangiomas. It is associated with diverse secondary musculoskeletal deformities. Sarcomatous transformation has been recorded in sixteen of 105 cases in the literature. A case report, illustrating the variety of deformities occurring in the syndrome, is presented. It is the first documentation of the occurrence of multiple primary sarcomas, and the second incidence of a mesenchymal ovarian tumor developing in a patient with Maffucci's syndrome. Surgery appears to be the treatment of choice for functional and neoplastic complications of the disease.


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