Week 3 - Osteogenesis Imperfecta

Question 1

what is osteogenesis colloqially known as?

Answer 1

brittle bone disease

Question 2

what is osteogenesis imperfecta?

Answer 2

defect of the maturation and organisation of type 1 collagen (which accounts for most of the organic composition of bone)

Question 3

how are most cases of osteogenesis imperfecta inherited?

Answer 3

autosomal dominant

Question 4

what are the common features of osteogenesis imperfecta?

Answer 4

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

Question 5

how else can osteogenesis imperfecta be inherited and how does this present?

Answer 5

autosomal recessive

either fatal in perinatal period or associated with spinal deformity

Question 6

why can osteogenesis imperfecta sometimes be misdiagnosed?

Answer 6

the multiple fractures can be mistaken for child abuse/Non-accidental injury

Question 7

describe the bones in osteogenesis imperfecta?

Answer 7

tend to be thin (gracile) with thin cortices and osteopenic

mild cases have normal X rays

Question 8

what else can cause a non-inherited osteogenesis imperfecta?

Answer 8

prematurity

can result in low energy fractures

Question 9

how is osteogenesis imperfecta treated?

Answer 9

fractures tend to heal with abundant but bad quality callus and are therefore treated with splintage or surgical stabilization

Question 10

what is a possible complication of osteogenesis imperfecta?

Answer 10

some cases can develop deformity which require multiple osteotomies and intramedullary stabilization