Congenital orthopaedic conditions

Question 1

What is developmental hip dysplasia?

Answer 1

Persistently abnormal relationship between femoral head and acetabulum, leading to abnormal bony development
Can lead to subluxation and dislocation

Question 2

What are the risk factors for DDH?

Answer 2

First born
Female
FH
Breech
Oligohydramnios
IUGR
Other leg deformity

Question 3

What is the presentation of DDH?

Answer 3

Positive Barlow test (in and down= dislocation)
Positive Ortolani (down and out= relocation)
Limited hip abduction
Abnormal position of leg
Delayed crawling/walking

Question 4

How is DDH diagnosed?

Answer 4

Exam
US
XR

Question 5

What is the management of DDH <6 months?

Answer 5

1st line= observation

2nd= splint, open/closed reduction with spica casting

Question 6

What is the management of DDH 6-18 months?

Answer 6

1st= Closed reduction with spica casting
2nd= open reduction with spica casting

Question 7

What is the management of DDH >18 months?

Answer 7

Open reduction with spica casting

Question 8

What are the complications of DDH?

Answer 8

Treatment related avascular necrosis
Residual acetabular dysplasia
Degenerative joint disease

Question 9

What is osteogenesis imperfecta?

Answer 9

Genetic disorder of type 1 collagen

Characterised by fractured bones from mild trauma or daily life

Question 10

What are the types of osteogenesis imperfecta?

Answer 10

1= mild, presents when child starts to walk normally
2= lethal
3= progressive deformity with severe bone dysplasia an poor growth
4= similar to 1 but more severe

Question 11

What is the presentation of osteogenesis imperfecta?

Answer 11

Dependent on severity
Multiple fractures
Hypermobility
Blue sclera
Growth deficiency
Scoliosis
Hearing loss
Easy bruising

Question 12

How is osteogenesis imperfecta diagnosed?

Answer 12

CLinically

Question 13

What is the management of osteogenesis imperfecta?

Answer 13

Medical- IV bisphosphonates, vit D supplementation
Surgical of fractures
Genetic counselling
Physio and OT

Question 14

What is achondroplasia?

Answer 14

Genetic skeletal dysplasia

Most common cause of dwarfism

Question 15

What is the presentation of achondroplasia?

Answer 15

Disproportionate short stature- average 4 feet
Humerus and femur most affected- trunk length mostly normal
Disproportionate skull with flattened mid face and prominent forehead

Question 16

What are th complications of achondroplasia?

Answer 16

Recurrent otitis media
Cervical cord compression and hdrocephalus
Spinal stenosis
Relatively overweight

Question 17

What is spina bifida?

Answer 17

Non fusion of vertebral arches during embryonic development

Question 18

What are the 3 categories of spina bifida?

Answer 18

Myelomeningocele- most severe
Meningocele
Spina bifida occulta

Question 19

What is myelomeningocele?

Answer 19

Nerve roots and/or spinal cord in sac

Neuro deficits- loss of sensation and muscle paralysis, associated with hydrocephalus

Question 20

What is meningocele?

Answer 20

Protrusion of meninges and CSF

Question 21

What is spina bifida occulta?

Answer 21

Most minor and common
Occurs at L5
Usually no clinical sympoms- sometimes dimple with tuft of hair

Question 22

How is spina bifida prevented?

Answer 22

Folic acid supplementation during pregnancy