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osteogenesis imperfecta treatment p. 49
osteogenesis imperfecta p. 720
osteogenesis imperfecta p. 49
osteogenesis imperfecta and p. 49
osteogenesis imperfecta p. 49
osteogenesis imperfecta p. 49
bisphosphonates p. 495
collagen and p. 48
presentation p. 720
osteogenesis imperfecta p. 49
osteogenesis imperfecta p. 49
Osteogenesis imperfecta (OI) is a genetic bone disorder characterized by impaired production of type 1 collagen, an essential protein in the development and maintenance of bones and connective tissue. Collagen provides strength and support to the bones, and in individuals with OI, the collagen produced is weak, leading to bones that are brittle and prone to fractures.
OI may present with shorter height and neurological features, including communicating hydrocephalus, basilar invagination, seizures, blue sclerae, hearing loss, and other complications. Associated fractures may cause acute or chronic pain, reduced quality of life, and depression.
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