Musculoskeletal disorders Flashcards
What syndrome is mutation in COL2A1 associated with?
SED congenital (also has late tarda form)
What is collagen 5 mutation associated with ?
ED
What is the genetic defect in Marfan’s?
Fibrillin-1
Is achondroplasia quantitative or qualitative cartilage defect?
Quantitative
What is COL1A1/2/3 defect cause?
OI
What is collagen 9 mutation associated with?
MED
Glycine to arginine mutation causes?
Achondroplasia - FGFR3 gene on Ch4
What is MASS and what is it never associated with?
Ectopia lentia or Aortic dissection (unlike Marfan’s)
MASS stands for mitral valve prolapse/aortic root upper limit normal/stretch marks/skeletal marfan’s
Is ALP up or down in X linked rickets?
Up (phosphate down hence the name and calcium/PTH/vitD normal because that pathway is ok)
Down’s syndrome - cervical instability
Percentage and normal ADI?
ADI indication for fusion?
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
What are the associations for patellofemoral instability
Down’s
Larson
Arthropgryposis
Diastrophic Dysplasia
Nail patella syndrome
Ellis van Creveld syndrome
Rett syndrome genetic mutation?
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
Gaucher disease - what is it and what’s the inheritance?
Congenital lysosomal storage disease of B- gluclocerebrosidase
Autosomal recessive
Ashkenazi Jews
JRA diagnostic criteria
And genetics
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)
Haemophillia A
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
Erhnemyer flask - 2 conditions
Osteopetrosis
Gaucher’s
Radial head subluxation - associated syndromes
Achondroplasia and nail patella syndrome
Double patella - which syndrome?
Diastrophic dysplasia
Down’s syndrome
Orthopaedic issues
Atlatoaxial instability
Hip subluxation
Patellofemoral instabilty
Scoliosis and
Spondylosisthesis
Pesplanus
Metatarus primus varus
SCFE
Patella dislocation in trisomy 21 treatment
lateral release medial reefing semitendinosis tenodesis, TTO
Gaucher disease - how does it manifest and what are the types?
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
JRA
Treatment
Treat DMARDS
TNF inhibitor etanercept
Rituximab monoclonal antibody
Azathiorpine
Epiphysiodesis/osteotomies,arthrodesis/plasty
Opth referral C spine XR
What is Jordan sign?
Squaring of patella and femoral condyles with haemophilia
Haemophilia B - factor?
Factor 9
X linked recessive (same as A)
