Rheumatology Flashcards
1
Q
Osteogenesis imperfecta summary:
- Features
- Genetics
- Investigations
A
- Recurrent fractures
- Blue sclera
- Bicuspid aortic valve -> AR
- Hypermobility
Autosomal dominant or sporadic (more severe)
Bloods - bone pro, genetic testing
Imaging - XRs, DEXA, Echo
Special - Audiology
