OSTEOGENESIS IMPERFECTA Flashcards
1
Q
What is the more commonly used lay term for osteogenesis imperfecta?
A
Brittle bone disease
2
Q
What is the aetiology of osteogenesis imperfecta?
A
Group of disorders of collagen metabolism resulting in bone fragility and fractures. Caused by mutation in type 1 collagen genes.
3
Q
What is the most common type of osteogenesis imperfecta?
A
Type 1
4
Q
What is the inheritance pattern of osteogenesis imperfecta?
A
Autosomal dominant
5
Q
What are the clinical features of type 1 osteogenesis imperfecta?
A
Fractures following minor trauma
Blue sclera
Deafness secondary to osteosclerosis
Dental problems
6
Q
How do we manage osteogenesis imperfecta?
A
Aggressive orthopaedic treatment of fractures to correct deformities
Genetic counselling of the parents
