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

What is osteogenesis imperfecta caused by?

Answer 2

> Defects in type 1 collagen

> Twenty-eight different types exist, although 4 common

Question 3

What are the four most common types of osteogenesis imperfecta?

Answer 3

Type 1: milder form-when child starts to walk and can present in adults

Type II: lethal by age 1

Type III: progressive deforming with severe bone dysplasia and poor growth

Type IV : similar to type 1 but more severe

Question 4

Other than fractures what are the signs and symptoms of osteogenesis imperfecta?

Answer 4

> Growth deficiency
> Defective tooth formation (dentigenesis imperfecta)
> Hearing loss
> Blue sclera
> Scoliosis
> Barrel chest
> Ligamentous laxity
> Easy bruising

Question 5

Osteogenesis imperfecta - management?

Answer 5

Surgical
-to treat fractures

Medical
-to prevent fracture
intravenous Bisphosphonates

Social
-adaptions educationally and socially

Genetic
-genetic counselling for parents and next generation