osteogenesis imperfecta Flashcards
1
Q
what is osteogenesis imperfecta
A
- a group of collagen disorders
- resulting in bone fragility fractures
- usually type 1
2
Q
what type of collagen is it
A
1
3
Q
pathophysiology
A
abnormality in type 1 collagen from decreased synthesis of pro-alpha1 or pro-alpha-2 collagen peptides
4
Q
genetic
A
autosomal dominant
COL1A1 / COL1A2
5
Q
features
A
- present in childhood
- blue sclera
- fracture following minor trauma
- deafness secondary to osteosclerosis
- dental imperfections
6
Q
investigations
A
Ca
Phosphate
PTH
ALP
all normal
7
Q
testing
A
- genetic testing
- imaging studies eg xray - assess bone density
- audiology evaluations - identify hearing loss
8
Q
management
A
- orthopaedic referral
- dental and auditory care
- bisphosphonates
