Paediatrics

Question 1

What is osteogenesis imperfecta also known as?

Answer 1

Brittle bone disease.

Question 2

What is the cause for osteogenesis imperfecta?

Answer 2

Defect of maturation and organisation of type 1 collagen.

Question 3

What are the clinical features of autosomal dominant osteogenesis imperfecta (most common)?

Answer 3

Multiple fragility fractures of childhood, short stature with multiple deformities, blue sclerae and loss of hearing.

Question 4

What are the clinical features of autosomal recessive osteogenesis imperfecta (rarer)?

Answer 4

Fatal in perinatal period or associated with spinal deformity.

Question 5

What do bones look like in OI?

Answer 5

Thin (gracile) with thin cortices and osteopenic. Mild cases may have relatively normal x-rays with history of low energy fractures.

Question 6

How do fractures heal and what are they treated with?

Answer 6

Abundant but poor quality callus, treated with splintage, traction or surgical stabilisation.

Question 7

What is dwarfism now known as?

Answer 7

Skeletal dysplasia.

Question 8

What causes skeletal dysplasia and what are the 2 main types?

Answer 8

Genetic error resulting in abnormal development of bone and connective tissue. Proportionate and disproportionate.