17 - Osteogenesis Imperfecta

Question 1

define Osteogenesis Imperfecta?

Answer 1

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

Question 2

describe clinical range?

Answer 2

broad - from those which are prenatally fatal to those only presenting in 40s with early ‘osteoporosis’

Question 3

explain the different defects in collagen?

Answer 3

defects in 8 types of collagen- 1st 4 are most common

Question 4

describe type 1 collagen defects?

Answer 4

milder form - when child starts to walk, can also present in adults

Question 5

describe type 11 collagen defects?

Answer 5

lethal by age of 1

Question 6

describe type 111 collagen defects?

Answer 6

progressive deforming with severe bone dysplasia and poor growth

Question 7

describe type 4 collagen defects?

Answer 7

more severe version of type 1

Question 8

name 7 other features of OI?

Answer 8

1 - growth deficiency
2 - defective tooth formation 
3 - hearing loss 
4 - blue sclera 
5 - scoliosis 
6 - ligamentous laxity 
7 - easy bruising

Question 9

what score is associated with OI?

Answer 9

the Beighton Score -

1 point for each thumb, 1 point for each finger, 1 point for each elbow, 1 point for each knee, 1 point for straight legs

Question 10

describe surgical treatment of ostegenesis imfperfecta?

Answer 10

to treat fractures

Question 11

describe medical treatment of ostegenesis imfperfecta?

Answer 11

to prevent fractures - IV bisphosphonates

Question 12

describe social treatment of ostegenesis imfperfecta?

Answer 12

educational and social adaptations

Question 13

describe genetic treatment of ostegenesis imfperfecta?

Answer 13

genetic counselling for parents and next generation