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.
