Osteogenesis imperfecta Flashcards
1
Q
Inheritance
A
Autosomal dominant
2
Q
Disorder in which type of collagen?
A
Type 1
(due to decreased synthesis of pro-alpha 1 or pro-alpha 2 collagen polypeptides)
3
Q
Features of osteogenesis imperfecta
A
fractures following minor trauma
blue sclera
deafness secondary to otosclerosis
dental imperfections are common
4
Q
When does osteogenesis imperfecta tend to present?
A
in childhood
5
Q
Describe the normal pattern of calcium, phosphate, PTH and ALP levels in osteogenesis imperfecta
A
All usually NORMAL
6
Q
A
