Osteogenesis Imperfecta

Question 1

What is this describing?
Autosomal dominant inherited disorder of type 1 collagen resulting in joint laxity and fragile low-density bones which recurrently fracture.

Answer 1

Osteogenesis imperfecta

Question 2

What is this a presentation of?
Multiple fractures from birth, healed fractures cause skeletal deformity, Wormian bones, short stature, blue sclera, hearing loss.

Answer 2

Osteogenesis imperfecta

Question 3

What is the management of osteogenesis imperfecta?

Answer 3

1. Prevent injury
2. Physio, OT
3. Low impact exercise to strengthen muscles and bones
4. Splint and correct fractures
5. Bisphosphonates to increase cortical thickness