Osteogenesis Imperfecta

Question 1

what is osteogenesis imperfect known as colloquially

Answer 1

brittle bone disease

Question 2

what is this a defect in

Answer 2

maturation and organisation of type 1 collagen

accounts for most of the organic composition of bone

Question 3

what is the inheritance most commonly

Answer 3

autosomal dominant

Question 4

what are some signs

Answer 4

multiple fragility fractures in childhood, short stature with multiple deformities, blue sclera, loss of hearing

Question 5

what does autosomal recessive inheritance cause

Answer 5

usually death in perinatal period or associated with spinal deformity

Question 6

what can this get mixed up with

Answer 6

multiple non accidental injury

Question 7

what other condition can cause low energy fractures

Answer 7

osteopenia due to prematurity

Question 8

what are bone features

Answer 8

thin with thin cortices and osteopenia

Question 9

how do fractures tend to heal

Answer 9

with abundant but poor quality callus’

Question 10

how are fractures treated

Answer 10

splint age, traction or surgical stabilisation

Question 11

some cases develop progressive deformity what is required to treat these

Answer 11

multiple osteotomies and intramedullary stabilisation for correction (sofield procedure)