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Osteogenesis Imperfecta

Osteogenesis imperfecta (OI), also referred to as brittle bone disease, may be a group of genetic disorders that mainly affect the bones. It results in bones that break easily. The severity may be mild to severe. Other symptoms may include a blue tinge to the whites of the attention, short height, loose joints, deafness, breathing problems, and problems with the teeth. Complications may include cervical artery dissection and aortic dissection. The underlying mechanism is typically a drag with animal tissue thanks to a scarcity of type I collagen. This occurs in more than 90% of cases due to mutations in the COL1A1 or COL1A2 genes. These genetic problems are often inherited from an individual's parents in an autosomal dominant manner or occur via a replacement mutation. There are a minimum of eight main types, with type I being the smallest amount severe and sort II the foremost severe. Diagnosis is usually supported symptoms and should be confirmed by collagen or DNA testing.

Last Updated on: Jul 03, 2024

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