Alternative titles and symbols : Tibia, bowing of, with pseudarthrosis and pectus excavatum; OFD;
Description : Osteofibrous dysplasia is a tumor-like bone lesion that usually presents as a painless
swelling or anterior bowing of the tibia (Park et al., 1993), although pain may occur
in up to 25% of cases and presentation may follow pathologic fracture. Most reports
of osteofibrous dysplasia describe isolated tibial lesions, although a significant
subgroup describe isolated and ipsilateral fibular involvement. Cases with ulnar and
radial involvement have been reported (summary by Hunter and Jarvis, 2002).;
Inheritance : Autosomal dominant;
Molecular basis : Susceptibility is conferred by mutation in the MET protooncogene gene (MET, 164860.0013);