Osteogenesis imperfecta Flashcards
1
Q
5 clinical features of osteogenesis imperfecta
A
Blue sclera Brittle bones -->Recurrent fractures Bow legged Shorter for gestational age/average height Spinal deformities i.e scoliosis Ligamentous laxity Brittle teeth
2
Q
3 features you might see on Type 3 on skull xray
A
Generalised osteopenia
Thin cortices
Wormian bones
3
Q
3 associated features
A
Deafness
Hernias
Dilated aortic root (Marfan like)
4
Q
3 members of the healthcare team involved
A
GP
Orthopedic surgeon
Physiotherapists
5
Q
Treatment for osteogenesis imperfecta?
A
Bisphosphonates
6
Q
Mode of inheritance for osteogenesis imperfecta?
A
Autosomal dominant (most types)
