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Osteogenesis imperfecta differential diagnosis

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Overview[edit | edit source]

Osteogenesis imperfecta must be differentiated from other diseases that cause lowering bone mineral density (BMD), such as osteoporosis, scurvy, osteomalacia, multiple myeloma, and homocysteinuria.

Differentiating Osteogenesis Imperfecta from other Diseases[edit | edit source]

Differential Diagnosis Similar Features Differentiating Features
Osteogenesis imperfecta -
Osteoporosis
  • On physical examination, demonstrates acute musculoskletal pain, if fracture happened
  • On imaging studies, demonstrates severe decrease in BMD
Idiopathic transient osteoporosis of hip
  • On physical examination, demonstrates acute hip pain
  • On imaging studies, demonstrates sub-chondoral cortical loss and diffuse osteopenia of the femoral neck
  • On history, demonstrates mostly involvement of pregnant women and young men
  • On history, demonstrates to be self-limiting in 6-8 months
Osteomalacia
Scurvy
Multiple myeloma
  • On physical examination, demonstrates diffuse bone pain and tenderness
  • On imaging studies, demonstrates osteolytic lesions in the bones
Homocystinuria

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