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Osteogenesis imperfecta (OI), a heritable disorder, occurs in 1 in 10,000 to 15,000 liveborn children and affects people of all ethnicities. An estimated 25,000 to 50,000 individuals in the United States are born with OI. OI is the result of a genetically abnormal bone matrix that does not respond appropriately to mechanical loads, leading to an increase in osteoblast number and osteoclast activity, accelerated bone turnover, and high risk for fractures.
It is important for all general pediatricians to be familiar with OI to ensure early diagnosis and optimal health outcomes. Pediatricians should be prepared to coordinate health maintenance and provide a medical home for affected individuals until they can be transitioned successfully to adult clinicians during young adulthood. Sometimes pediatricians must differentiate OI from abuse and other conditions that can mimic OI.
The diagnosis of OI may be based on...