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Osteogenesis Imperfecta

History

The typical presentation is with:

  • Multiple low trauma fractures during childhood and adolescence
  • Continued fractures during adult life
  • Back pain or height loss
  • Deafness
  • Soft tissue injuries
  • Most patients have a positive family history

Examination

  • Blue sclerae.
  • Hypermobility.
  • Bone deformity (in severe cases)

Investigations

  • Routine biochemistry and vitamin D
  • X-ray thoracic and lumbar spine if height loss or back pain

DEXA (unless already done in the past 5 years)

When to refer

Patients with osteogenesis imperfecta should be referred to the osteoporosis service.

Initial management

Treat on a symptomatic basis pending clinic review. Bisphosphonates have not been shown to reduce fracture risk in adults with osteogenesis imperfecta and should not be prescribed routinely. Calcium and vitamin D supplements may be prescribed if dietary calcium is low and/or vitamin D levels are low.