title: Autosomal dominant gigantiform cementoma associated with bone fractures.
abstract: 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.
authors.affiliation: Department of Oral and Maxillofacial Pathology, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
authors.forename: Mohammad
authors.initials: M
authors.lastname: Moshref
authors.forename: Arash
authors.initials: A
authors.lastname: Khojasteh
authors.forename: Bahram
authors.initials: B
authors.lastname: Kazemi
authors.forename: Mohsen Vahid
authors.initials: MV
authors.lastname: Roudsari
authors.forename: Masood
authors.initials: M
authors.lastname: Varshowsaz
authors.forename: Behnam
authors.initials: B
authors.lastname: Eslami
mesh_terms: D000328:Adult; D002485:Cementoma / Q000235:genetics* / Q000473:pathology; D004252:DNA Mutational Analysis; D005190:Family; D050723:Fractures, Bone / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics*; D006801:Humans; D007573:Jaw Neoplasms / Q000235:genetics* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D010009:Osteochondrodysplasias / Q000150:complications / Q000235:genetics; D010375:Pedigree; D011859:Radiography