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Autosomal dominant gigantiform cementoma associated with bone fractures
Author(s) -
Moshref Mohammad,
Khojasteh Arash,
Kazemi Bahram,
Roudsari Mohsen Vahid,
Varshowsaz Masood,
Eslami Behnam
Publication year - 2008
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.32171
Subject(s) - osteogenesis imperfecta , osteopenia , pathological , medicine , genetic disorder , dentinogenesis imperfecta , skeletal disorder , genetic heterogeneity , pathology , anatomy , osteoporosis , biology , genetics , bone mineral , phenotype , disease , gene
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 Wiley‐Liss, Inc.