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Abstract:
Osteogenesis imperfecta (OI), also known as fragilitas ossium or brittle bone disease, is a rare, inherited disease of connective tissue resulting in errors in collagen I synthesis. The incidence of the condition has been quoted as being between 1:20,000 to 1:60,000 live births, affecting females more than males. It has been classified into four types. This case study concerns a pregnant woman suffering from the most common form of OI, type I, which affects 80% of sufferers and occurs as an autosomal dominant inheritance or as a new mutation.