Osteogenesis Imperfecta

Question 1

What is osteogenesis imperfecta

Answer 1

Genetic disorder of connective tissue characterised by fragile bones from mild trauma and even acts of daily life

Question 2

Osteogenesis Imperfecta there is a defect in what type of collagen

Answer 2

1

Question 3

Type 1 Osteogenesis Imperfecta is what severity

Answer 3

Mild

Question 4

What type of Osteogenesis Imperfecta is lethal by age 1

Answer 4

Type 11

Question 5

Osteogenesis Imperfecta Type 111 presents as

Answer 5

progressive deforming with severe bone dysplasia and poor growth

Question 6

Osteogenesis Imperfecta Features

Answer 6

Growth deficiency

Defective tooth formation (dentigenesis imperfecta)

Hearing loss

Blue sclera

Scoliosis / Barrel Chest

Ligamentous laxity

Easy bruising

Question 7

which score to use for Osteogenesis imperfecta

Answer 7

Beighton Score

Question 8

Management of Osteogenesis Imperfecta

Answer 8

surgery to treat fractures

to prevent fracture iv bisphosphonates