Osteogenesis imperfecta, called OI, means those affected by the brittle bone disease may have easily broken bones, blue sclera -- typically the white around the eyes -- hearing loss, loose joints and fragile teeth.
OI is caused by a defect in a gene for collagen that leads to decreased production of the collagen protein, which is a major component of bone. When it is not present in the proper amounts or is defective, bones are fragile.
More severe forms may mean smaller stature. In certain OI types, newborns can be severely affected with an extremely small chest and underdeveloped lungs. For others there can be a tendency toward spinal curvature. Metal rods may be inserted through the length of the long bones to strengthen them and prevent deformities.
Exercise, which is thought to increase bone density, is considered helpful. Swimming is one of the best options. And new treatment hope may come from drugs used for osteoporosis, the loss of bone mass often found in women after menopause.
For more information, contact the Osteoporosis and Related Bone Diseases National Resource Center at 800-624-BONE, or the Web site at www.osteo.org. The OI Foundation is also an active source of information and can be reached online at www.oif.org.
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