Here, we report a family with gigantiform cementomas, bone fractures, and autosomal dominant inheritance. Lesions are composed of benign, lobulated, calcified masses resembling cementum. Identification of a COL1A2 mutation in one patient was a polymorphism of no pathological significance. The subject of gigantiform cementomas and the associated bone disorder is both confusing and complex. Reported familial instances indicate genetic heterogeneity with (1) osteopenia and bone fractures, (2) one form of osteogenesis imperfecta, and (3) a polyostotic diaphyseal bone disorder. _ 2008 W ley-L iss, Inc.
کلید واژگان :
benign jaw lesions; cementum; florid osseousdysplasia; osteogenesis imperfecta; bone fractures; COL1A2; nonpathologic polymorphism; polyostotic diaphyseal bone disorder; variability in expression; genetic heterogeneity
