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Key Features

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  • Rare genetic connective tissue disease;estimated incidence is 1 in 12,000–15,000

  • Characterized by multiple and recurrent fractures

  • There are several forms of osteogenesis imperfecta, designated type I to type XII

    • Types I–V are the result of autosomal dominant mutations

    • Types VI–XII are autosomal recessive

    • Each type is associated with a mutation of a different gene, varying levels of severity, and a range of characteristic features

  • The severe fetal type (osteogenesis imperfecta congenita) is distinguished by multiple intrauterine or perinatal fractures

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Clinical Findings and Diagnosis

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  • Characteristic findings

    • Blue sclerae

    • Thin skin

    • Hyperextensibility of ligaments

    • Otosclerosis with significant hearing loss

    • Hypoplastic and deformed teeth

  • Clinical features lead to diagnosis in the majority of cases

  • Moderately affected children have numerous fractures and exhibit dwarfism as a result of their acquired bone deformities and growth retardation

  • Fractures begin to occur at different times and in variable patterns after the perinatal period, resulting in fewer fractures and deformities relative to severe cases

  • Cortical thickness is reduced in the shafts of the long bones, and accessory skull bones that are completely surrounded by cranial sutures (wormian bones) are present in the skull

  • Cardiovascular and respiratory problems are the most common causes of morbidity and mortality in adulthood

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Treatment

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  • Surgical treatment involves deformity correction of the long bones

  • Multiple intramedullary rods have been used to decrease the incidence of fractures and prevent deformity from fracture malunion

  • Patients are often confined to wheelchairs during adulthood

  • Bisphosphonates have been shown to decrease the incidence of fractures

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