What is Osteogenesis Imperfecta (OI)?
Osteogenesis Imperfecta (OI) is a broad group of genetic mutations that cause a defect in the way the body manufactures collagen. The general defects are the insufficient production of normal collagen and/or the production of abnormal collagen. A person can have more than one defect, and therefore, may be classified as having a mixed type of OI. The most common and obvious effect is brittle bones. There are currently 4 classifications or types, with each type having a range in severity. Because most cases of OI are new genetic mutations, each person’s genetic defect is slightly different. This means that each person with OI is different from each other person in regards to the specific effect this has on thier body. Some people tend to break only certain bones, while others seem to (and sometimes do) break just about everything. The severity of OI is extremely broad. The most mildly affected people may not ever break a bone or may break only a couple times in their life, while the most
