OSTEOGENESIS IMPERFECTA Flashcards
1
Q
What is it?
A
brittle bone disease
disorders of collagen metabolism resulting in bone fragility and fractures
2
Q
what is the mildest form
A
osteogenesis imperfecta is type 1
3
Q
what is the pattern of inheritance
A
autosomal dominant
4
Q
what is the abnormality in which type of collagen
A
type 1 collagen due to decreased synthesis of pro-alpha 1 or pro-alpha 2 collagen polypeptides
5
Q
when does it present in
A
childhood
6
Q
features
A
fractures following minor trauma
blue sclera
deafness secondary to otosclerosis
dental imperfections are common
7
Q
Ix
A
adjusted calcium, phosphate, parathyroid hormone and ALP results are usually normal in osteogenesis imperfecta
