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Updated: Aug 30 2019

Osteogenesis Imperfecta / Brittle Bone Disease

  • Snapshot
    https://upload.medbullets.com/topic/112036/images/characteristically_blue_sclerae_of_patient_with_osteogenesis_imperfecta.jpg
    • A 4-year-old girl falls down on the playground and is rushed to the emergency room. Her work-up reveals a new fracture in her right tibia, as well as multiple old fractures in her bilateral arms and legs at various stages of healing. Her physician is concerned about child abuse, but communication with the girl’s pediatrician reaveals her condition. On exam, her sclera are blue.
  • Introduction
    • Defect in production of type I collagen causing abnormal, fragile bones that fracture easily
    • Also known as “brittle bone disease”
    • Often confused with child abuse
  • Evaluation
    • Diagnosis made by clinical and radiographic findings (skeletal survey)
    • Confirmed with DNA (blood or saliva) or protein testing (skin biopsy)
  • Differential
    • Non-accidental injury
    • Idiopathic juvenile osteoporosis
  • Treatment
    • Bisphosphonates to increase bone mineral density
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MSK | Osteogenesis Imperfecta / Brittle Bone Disease
  • MSK
  • - Osteogenesis Imperfecta / Brittle Bone Disease
8:26 min
7/22/2021
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