Osteogenesis Imperfecta (OI)
OI is a disorder in which there is either not enough collagen, or the collagen is formed abnormally. The disease severity ranges everywhere from mild to lethal. The kids that have abnormal collagen often have more severe forms of the disease. The type of abnormal collagen is not only found in their bones. It is located in many other tissues of the body, including teeth, skin, blood vessels, ear bones and the whites of the eyes.
OI is characterized by multiple fractures. These fractures may cause the bone to heal in an abnormal position, which may predispose a child to get additional fractures. These fractures may lead to a chronic pain and a poor quality of life. As such, it is the responsibility of all caregivers to decrease the risk of additional fractures by:
- Minimizing duration of fracture immobilization (can get osteoporosis due to immobilization)
- Encouragement of weight bearing with the use of braces when necessary
- Taking adequate levels of daily calcium and vitamin D
- Taking certain medications called bisphosphonates (which increase bone mineral density) for children more severely involved
- Surgical implanting of rods in the femurs and tibias of more severely involved children to correct current deformities and protect the bone against future fracture
Xray of a small boy with OI. Note the crookedness of the top of the femur bones from prior fractures (solid arrow).
Xray of the same boy after surgery, one year later. Note the straightening of the bone with surgery, and implanting of rods to keep the bones straight.