OSTEOGENESIS IMPERFECTA Flashcards Preview

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Flashcards in OSTEOGENESIS IMPERFECTA Deck (6)
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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