Osteogenesis Imperfecta

Question 1

what is osteogenesis imperfecta?

Answer 1

hereditary conditions caused by decreased collagen amt leading to fragile bones prone to fractures

milder form - autosomal dominant
severe form - autosoomal recessive

Question 2

manifestations of osteogenesis imperfecta?

Answer 2

several fractures during childhood a/w long bowing and short stature
hearing loss
blue sclerae
dental abnormalities

(BITE - bone, eye, teeth, ears)

Question 3

treatment of osteogenesis imperfecta?

Answer 3

physiotherapy
bisphosphonates (pamidronate, zoledronic acid)
vit D supplements

Question 4

diagnosis of osteogenesis imperfecta?

Answer 4

no single test
mostly clinically diagnosed

x-rays used to check for fractures and bone changes
DEXA if >10kg
genetic testing not routine