Course Description:

Osteogenesis imperfecta (OI) is a genetic disorder characterized by fragile, brittle bones and multiple fractures. There are several types of OI, and the disease can vary from mild in severity to fatal in the neonatal period. Types I-V OI are autosomal dominant and types VI-VII are autosomal recessive. Symptoms include frequent fractures, especially of the vertebrae and extremities, below-average height, hearing loss, blue sclera, and gross motor delays. Patients with OI should be handled gently because of fracture risk. There is no cure. Prognosis depends on the type of OI. Treatment focuses on reducing pain and complications. Bisphosphonates may be prescribed to increase bone density. In more severe cases, metal rods may be implanted into the long bones of the legs to reduce fracture risk. Bracing may also be tried. Physical therapy for OI includes education, strengthening exercises, aerobic fitness, and safe mobility training. Rehabilitation challenges may include fractures, hypermobile joints, brace noncompliance, and fear of movement. Prognosis varies depending on OI type.