Osteogenesis Imperfecta (OI), a genetic disease, causes weakness in organs and tissues as a result of faulty or underproduction of collagen protein, the basic building block of connective tissues.
There are many different types of the disease. Some cases have recurrent fractures that cause lifelong difficulties for the child and family, while in others fractures are less common and can be treated with preventive interventions.
OI patients have recurrent long bone fractures and related deformities, laxity in all ligaments, short stature, scoliosis, spinal compression fractures, and fractures between the neck and skull that can lead to nerve compression. OI patients may also suffer from blueing of the eyeballs, hearing loss, dental caries and heart valve disorders.
Patients with OI can be treated for fractures by a pediatric orthopedist at birth and new fractures can be prevented. Bone density can also be improved with medication.
Although significant progress has been made in the treatment of OI with plaster and splint treatments, surgery is also the decisive step in the improvement of patients.
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