Musculoskeletal disorders

Question 1

What syndrome is mutation in COL2A1 associated with?

Answer 1

SED congenital (also has late tarda form)

Question 2

What is collagen 5 mutation associated with ?

Answer 2

ED

Question 3

What is the genetic defect in Marfan’s?

Answer 3

Fibrillin-1

Question 4

Is achondroplasia quantitative or qualitative cartilage defect?

Answer 4

Quantitative

Question 5

What is COL1A1/2/3 defect cause?

Answer 5

OI

Question 6

What is collagen 9 mutation associated with?

Answer 6

MED

Question 7

Glycine to arginine mutation causes?

Answer 7

Achondroplasia - FGFR3 gene on Ch4

Question 8

What is MASS and what is it never associated with?

Answer 8

Ectopia lentia or Aortic dissection (unlike Marfan’s)
MASS stands for mitral valve prolapse/aortic root upper limit normal/stretch marks/skeletal marfan’s

Question 9

Is ALP up or down in X linked rickets?

Answer 9

Up (phosphate down hence the name and calcium/PTH/vitD normal because that pathway is ok)

Question 10

Down’s syndrome - cervical instability

Percentage and normal ADI?

ADI indication for fusion?

Answer 10

Generalised laxity
Short stature
C1-2 instability 17.5%
- ADI of under 5 is normal 5-10 in Down’s normal
- ADI >10 or <14 SAC posterior fusion

Question 11

What are the associations for patellofemoral instability

Answer 11

Down’s
Larson
Arthropgryposis
Diastrophic Dysplasia
Nail patella syndrome
Ellis van Creveld syndrome

Question 12

Rett syndrome genetic mutation?

Answer 12

X linked dominant MECP2 gene

Affects girls 6-18 months of age
Males don’t survive to term
Affects grey matter
95% de novo not inherited

Behaviour
Seizures
Spatic joints hypotonia and scoliosis

Normal development for first 6 months

Question 13

Gaucher disease - what is it and what’s the inheritance?

Answer 13

Congenital lysosomal storage disease of B- gluclocerebrosidase
Autosomal recessive
Ashkenazi Jews

Question 14

JRA diagnostic criteria
And genetics

Answer 14

HLA markers DR4 other DRs

Diagnosis
rash/RF/c spine/,morning stiffness/pericarditis/tenosynovitis/fevers/iridocyclitis

Diagnosis of exclusion
Bloods CRP and ESR up rest are not useful

Poly/pauci/systemic (inclues Stills which is poly)

Question 15

Haemophillia A

Answer 15

Haemophilia A is factor 8

Both 8-9 needed to generate thrombin in intrinsic pathway
Can’t make clot and bleeds

X linked recessive suually
Knee/elbow/ankle/shoulder and spine

Question 16

Erhnemyer flask - 2 conditions

Answer 16

Osteopetrosis
Gaucher’s

Question 17

Radial head subluxation - associated syndromes

Answer 17

Achondroplasia and nail patella syndrome

Question 18

Double patella - which syndrome?

Answer 18

Diastrophic dysplasia

Question 19

Down’s syndrome

Orthopaedic issues

Answer 19

Atlatoaxial instability
Hip subluxation
Patellofemoral instabilty
Scoliosis and
Spondylosisthesis
Pesplanus
Metatarus primus varus
SCFE

Question 20

Patella dislocation in trisomy 21 treatment

Answer 20

lateral release medial reefing semitendinosis tenodesis, TTO

Question 21

Gaucher disease - how does it manifest and what are the types?

Answer 21

Haem, joint pain, osteonecrosis and developmental delay
- prolonged bleeding, fractures, ON
Bone deformityes of distal femur or proximal tibia

Ehlenmeyer flask

Gaucher classification
1 - fractures
2. Lethal
3 clinically diverse

Question 22

JRA

Treatment

Answer 22

Treat DMARDS
TNF inhibitor etanercept
Rituximab monoclonal antibody
Azathiorpine

Epiphysiodesis/osteotomies,arthrodesis/plasty
Opth referral C spine XR

Question 23

What is Jordan sign?

Answer 23

Squaring of patella and femoral condyles with haemophilia

Question 24

Haemophilia B - factor?

Answer 24

Factor 9

X linked recessive (same as A)