osteogenesis imperfecta Flashcards
1
Q
what
A
genetic condition resulting in brittle bones
genetic mutations affecting formation of collagen
2
Q
presentation
A
recurrent + inappropriate # hypermobility blue/grey sclera triangular face short stature deafness early adulthood dental problems esp teeth formation bone deformities joint + bone pain
3
Q
diagnosis
A
clinical picture
X-ray helpful for diagnosing # and bone deformities
4
Q
medical treatments
A
bisphosphonates
vitamin d supplementation
