Glossary

Glossary


Osteogenesis imperfecta
An autosomal dominant disorder that impairs the body's ability to make an essential building-block protein called collagen, or produces an altered form of collagen, leading to weak bones that break easily. The most severe form, Type II, is usually fatal at a young age or even at birth. The Type III form produces bone fractures that are often present at birth, and x-rays may reveal healed fractures that occurred before birth. Because OI has a dominant pattern of inheritance, a parent with the disease has a 50 percent chance of passing it to a child. It is often caused by a new mutation in the affected individual (not inherited from a parent).
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