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Brittle Bone diseases (Osteogenesis Imperfecta)
Background
Brittle Bone diseases: Osteogenesis Imperfecta (OI)
Brittle bone diseases are caused by an abnormality in collagen protein that the body needs for bones as well as other structures such as skin, ligaments and teeth. The condition often leads to an increased likelihood of fractures. Abnormalities in other collagen containing tissues leads to additional problems in some patients such as lax joints, fragile teeth, blue or grey sclera (whites of eyes) and bruising. Some people with OI have short stature and some develop deafness, particularly in the teenage years or their twenties.
There are a number of types of brittle bone disease that can vary in severity from mild, in which the patient may not be correctly diagnosed and children may simply be thought to be accident prone, through to severe in which babies have multiple fractures even before birth. The frequency of fractures may increase in adolescence, following childbirth in women and during late adulthood.
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