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June 29, 2007

Brittle bone disease type VII identified by geneticists in Montreal

Osteogenesis imperfecta (OI) is a heritable bone disease that affects 1 in 10,000 children. It is usually caused by mutations in one of the two collagen type I genes. Collagen type I is the most abundant protein in the body and is present in a wide variety of tissues, such as bone, tendon, skin and teeth. Traditionally, four different types of OI have been distinguished on the basis of clinical appearance and disease severity. However, over the past 10 years, studies at the Shriners Hospital in Montreal have shown that a number of OI patients do not fit into one of these four types. This was the starting point for our description of the "new" OI types, which we called OI types V, VI, and VII.

For more on this, read our Orthopedik magazine online.


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