Osteogenesis imperfecta Flashcards
1
Q
What is osteogenesis imperfecta?
A
A genetic condition that results in brittle bones that are prone to fracture
2
Q
What is the inheritance pattern of osteogenesis imperfecta?
A
Autosomal dominant
3
Q
What is the aetiology of osteogenesis imperfecta?
A
A default in the production of type 1 collagen
4
Q
What is the presentation of osteogenesis imperfecta?
A
Hypermobility
Blue/grey sclera
Short stature
Dental problems
Bone deformities
Joint and bone pain
Triangular face
5
Q
What is the medical treatment of osteogenesis imperfecta?
A
Bisphosphonates
Vitamin D supplementation
6
Q
Who is involved in the care of patients with osteogenesis imperfecta?
A
OT
PT
Paediatrics
Orthopaedic surgeons
Social workers
Specialist nurses
