Recurrent fractures, often with minimal trauma, family history. Joint and bone pain can be an issue even without fractures.
No single test for osteogenesis imperfecta. Clues might be deformities, short stature, hypermobility and poor dentition.
Type 1 is most mild, no deformities. Type 2 lethal in early life, antenatal scan may show chest wall abnormality and respiratory failure often at birth.
Type 3 is severe, with fractures in the womb or during birth. Short stature, deformities marked.
Type 4 variable, may only be diagnosed later in life. Type 5 associated with excessive callus formation.
Bisphosphonate infusions are used for the most severely affected. Otherwise, management revolves around:
- Fracture and pain management
- Aids eg wheelchairs
- Physiotherapy, esp if immobile due to fractures