title: Osteofibrous dysplasia: two affected male sibs and an unrelated girl with bilateral involvement.
abstract: 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.
authors.affiliation: Eastern Ontario Genetics Program, Children's Hospital of Eastern Ontario, Ottawa, Canada. heddalasdair@aol.com
authors.forename: Alasdair G W
authors.initials: AG
authors.lastname: Hunter
authors.forename: James
authors.initials: J
authors.lastname: Jarvis
mesh_terms: D002648:Child; D002675:Child, Preschool; D003937:Diagnosis, Differential; D005260:Female; D005357:Fibrous Dysplasia of Bone / Q000000981:diagnostic imaging / Q000473:pathology*; D006801:Humans; D008297:Male; D011859:Radiography; D035781:Siblings