Ortho - Osteogenesis Imperfecta Flashcards
1
Q
What is osteogenesis imperfecta?
A
Genetic condition causing a mutation in collagen leading to brittle bones that are prone to fractures
2
Q
How does osteogenesis imperfecta present?
A
- Hypermobility
- Blue/grey sclera
- Triangluar face
- Short stature
- Deafness
- Dental issues
- Bowed legs and scoliosis
- Joint and bone pain
- Frequent fractures
3
Q
How is osteogenesis imperfecta diagnosed?
A
Clinical diagnosis
Xrays can help diagnose fractures and bone deformities
Genetic testing is possible but not routine
4
Q
How is osteogenesis imperfecta treated?
A
Bisphosphonates to increase bone density
Vitamin D supplementation to prevent deficiency
MDT
- Physiotherapy
- Paediatricians
- Orthopaedic surgeons for fractures
- Specialist nurses and social workers
