Orthopaedics

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The orthopaedic manifestations of osteogenesis imperfecta : a collective review.
(2016) Bhatta, Aabash Dev.; Rasool, Mahomed Noor.
Osteogenesis imperfecta (OI), or brittle bone disease, is a debilitating genetic disorder of connective tissue which is characterized by reduced skeletal mass and bone fragility. OI results from mutations in genes encoding for type I collagen. Since collagen is the major structural protein in bone, ligaments, tendons, skin, sclera and dentin, clinical manifestations of OI include fragile bones with skeletal deformity, blue sclerae, hearing loss, and opalescent teeth. The orthopedic manifestations of OI are diverse. Most OI patients present with long bone fractures, joint contractures, foot deformities and bowing of long bones. Successful treatment of this condition is potentially challenging and requires a multidisciplinary approach. Surgical intervention is cumbersome because of growing bone, poor bone quality and soft tissue contractures. Advances in the medical management of OI have shown promising increases in bone mineral density and decreases in fracture incidence.