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Osteogenesis imperfecta also called “Brittle Bone Disease” comprises a heterogeneous group of heritable disorders. The disorders are frequently associated with blue sclerae, dental abnormalities (dentinogenesis imperfecta), progressive hearing loss, and a positive family history.
Most patients have mutations in one of the two genes coding for Type I collagen
More than 90% of cases exhibit an autosomal dominant inheritance
Commonly mutated genes are COL1A1 and COL1A2
This condition represents one of the most common heritable bone diseases, with a worldwide prevalence of approximately 6 to 7 per 100,000 population.