Osteofibrous dysplasia: two affected male sibs and an unrelated girl with bilateral involvement

Alasdair G W Hunter, James Jarvis
American Journal of Medical Genetics 2002 September 15, 112 (1): 79-85
Osteofibrous dysplasia (OFD) is a tumor-like bone lesion that occurs most often in the tibia, presenting as a painless swelling or anterior bowing. Radiographs show a well-circumscribed intracortical lucency, or multiple lucencies separated by sclerotic borders, associated with a diaphyseal expansion. The histogenesis of OFD and its possible relationships to fibrous dysplasia and to adamantinoma have been the subject of significant discussion and investigation. We have been unable to find any reports of familial OFD, and have found only two references to bilateral involvement. In this article, we report both bilateral and familial involvement, and suggest that more thorough investigation of patients and their families may uncover similar cases, and perhaps support a genetic component to the etiology of this condition.

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