Osteogenesis imperfecta

Osteogenesis imperfecta is a rare congenital skeletal dysplasia disease, also known as brittle bone disease or brittle bone-blue sclera-deafness syndrome. It is characterized by fragile bones, blue sclera, deafness, and loose joints. It is a congenital hereditary pain caused by hypoplasia of mesenchymal tissue and impaired collagen formation. The lesions are not limited to bones, but often involve other connective tissues such as eyes, ears, skin, and teeth. The disease is hereditary and familial, but there are a small number of single cases.

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