Children Orthopaedics

Question 1

What is osteogenesis imperfecta

Answer 1

Brittle bone disease caused by inherited defect in type 1 collagen

Question 2

Why is type 1 collagen important

Answer 2

It makes up for most of the composition of bone

Question 3

Signs of osteogenesis imperfecta

Answer 3

multiple low energy fractures in childhood
short stature
deformities
blue sclerae
loss of hearing

Question 4

What is skeletal dysplasia

Answer 4

Short stature (dwarfism) due to genetic error leading to abnormal development of bone

Question 5

Most common type of skeletal dysplasia

Answer 5

Achondroplasia

Question 6

What is achondroplasia

Answer 6

Genetic condition affecting fibroblast growth factor receptor slowing down the growth of bone

Question 7

Classic signs of achondroplasia

Answer 7

Prominent forehead
Widened nose
disproportionately short limbs

Question 8

Management of skeletal dysplasia

Answer 8

Genetic testing for the family
Deformity correction
Growth hormones therapy

Question 9

What is familial joint laxity

Answer 9

Hypermobility of joints, runs in family

Question 10

What may occur in patients with familial joint laxity

Answer 10

Recurrent dislocations
More prone to soft tissue injuries

Question 11

What can people with familial joint laxity perform

Answer 11

Voluntary dislocation of the shoulder

Question 12

Inheritance pattern of familial joint laxity

Answer 12

Autosomal Dominant

Question 13

Inheritance pattern of Marfan’s syndrome

Answer 13

Autosomal / sporadic mutation

Question 14

Which gene does Marfan’s syndrome affect

Answer 14

fibrillin gene
Fibrillin is a glycoprotein

Question 15

Signs of Marfan’s syndrome

Answer 15

Ligamentous laxity
Disproportionately long limbs
Tall stature
Scoliosis
Eye problems
Pectus excavatum (flattening of chest)

Question 16

What cardiac conditions are Marfan’s syndrome patients more prone to

Answer 16

Aortic aneurysm
Mitral regurgitation

Question 17

What murmur is heard in mitral regurgitation

Answer 17

pansystolic murmur best heard at apex

Question 18

Signs of Ehlers Danlos syndrome

Answer 18

Hyperlaxity of joint
Easy bruising
Scoliosis

Question 19

What happens to the chromosomes in Down syndrome

Answer 19

Trisomy (extra copy) of chromosome 21

Question 20

Signs of Down syndrome

Answer 20

Hyperlaxity of joints
Recurrent dislocations
short stature

Question 21

Which joint is most prone to recurrent dislocations in patients with down syndrome

Answer 21

patella

Question 22

Why do muscular dystrophies only affect boys

Answer 22

Because these are X linked recessive inherited disorders

Question 23

Life expectancy of Duchenne muscular dystrophy

Answer 23

death in early 20s

Question 24

Life expectancy of Becker’s muscular dystrophy

Answer 24

death in 30s or 40s

Question 25

What are the muscular dystrophies and how do these conditions cause death

Answer 25

Progressive muscle weakening and wasting Progressive muscle weakness -> no longer can walk -> progressive cardiac and resp failure -> death

Question 26

Which structures are affected in spastic cerebral palsy

Answer 26

Motor cortex Upper motor neurones Corticospinal tract

Question 27

What is spastic cerebral palsy

Answer 27

A type of cerebral palsy with signs of muscle weakness and spasticity

Question 28

Function of motor cortex

Answer 28

Region of cerebral cortex involved in the planning, control and execution of voluntary movements

Question 29

What is the corticospinal tract

Answer 29

Major neuronal pathway providing voluntary motor function

Question 30

What are the upper motor neurones

Answer 30

The nerves in CNS which carry impulses for movement