Osteogenesis imperfect a- report of a rare case with review of literature

Osteogenesis imperfecta (OI) commonly called as ‘Brittle Bone Disease’ is a rare genetic disorder characterized by increased bone fragility and decreased bone density due to qualitative and/or quantitative abnormalities of Type I collagen biosynthesis. It comprises of a group of heterogeneous systemic disorders with estimated 90% of cases occurring due to molecular defects in Type I collagen genes, COL1A1 and COL1A2. This paper highlights a rare case of Osteogenesis imperfecta with description of clinical features, radiographic findings and its future prospects in the management.