Osteogenesis Imperfecta - week 17

Question 1

What is osteogenesis imperfecta?

Answer 1

Genetic connective tissue disorder, brittle bones

Question 2

Epidemiology of osteogenesis imperfecta?

Answer 2

Children
Rare

Type 1 - mild
Type 2 - fatal from birth
Type 3 - severe
type 4 - moderate

Question 3

Pathophys of osteogenesis imperfecta?

Answer 3

Mutation of collagen - Col-1-A1 an Col-1-A2
Autosomal dominant (type 1 collagen)

Question 4

Presentation of osteogenesis imperfecta?

Answer 4

Brittle bones
Fractures (from low impacts)
Blue Sclera
Short height
Scoliosis
Saber shins (tibia)
Muscle weakness

Question 5

Investigation for osteogenesis imperfecta?

Answer 5

Exam
Genetics
History
Xray
DEXA

Question 6

Management of osteogenesis imperfecta?

Answer 6

Bisphosphonates
Vit D and Ca supplements
Surgery (IM rods)

Question 7

Prognosis of osteogenesis imperfecta?

Answer 7

Type 1 - normal life
Type 2 - fatal at birth
Type 3 - severe disability
type 4 - moderate