Osteogenesis imperfecta
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Osteogenesis imperfecta
0 of 11 complete
Questions
USMLE® Step 1 style questions USMLE
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Laboratory results are within normal limits. Plain radiograph shows a fracture of the olecranon. Which of the following is the most likely explanation for the patient’s presentation?
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Bisphosphonates p. 495
osteogenesis imperfecta treatment p. 49
Blue sclerae p. 49
osteogenesis imperfecta p. 720
Bone disorders
osteogenesis imperfecta p. 49
Child abuse p. 573
osteogenesis imperfecta and p. 49
Dentin
osteogenesis imperfecta p. 49
Hearing loss p. 548
osteogenesis imperfecta p. 49
Osteogenesis imperfecta p. 49
bisphosphonates p. 495
collagen and p. 48
presentation p. 720
Sclerae p. 549
osteogenesis imperfecta p. 49
Teeth
osteogenesis imperfecta p. 49
Summary
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.