Vol. 10, Issue 5, Part A (2024)

Abstract
Osteogenesis imperfecta (OI) is an inherited (Genetic) bone disorder that is present at birth. It is also known as brittle bone disease. A child born with OI may have soft bones that break (Fracture) easily, bones that are not formed normally, and other problems. OI encompasses a group of mostly autosomal dominant hereditary alterations that are caused by several mutations in one of the two genes encoding the alpha chains, i.e., COL1A1 and COL1A2, of type 1 collagen. Bone fragility is conditioned by the quantity and quality of abnormal structural collagen protein. Therefore, bone deformities or fractures at minimal trauma are expected in patients with the disease. OI presentation varies from the lethal forms of intrauterine fractures to late cases in which fractures start in adolescence or even adulthood.