MSK Flashcards
Describe SUFE ?
10-15 YEAR OLD OBESE POST GROWTH SPURT
Displacement of the epiphysis of the femoral head posteroinferiorly, requiring prompt treatment in order to prevent avascular necrosis
Describe perthes
Boys aged 4-8
Interruption of the blood supply causes avascular necrosis of the capital femoral epiphysis of the femoral head, and is followed by revascularization and reossification over 18–36 months
What is the most common form of osteogenesis imperfecta? what is gene mutation + inheritance
Osteogenesis imperfecta type 1
COL1A1/COL1A2 AD
What is classic presentation of osteogenesis imperfecta type 1?
multiple childhood fractures
Bue sclera. +/- hearing loss
what are the inherited forms of rickets?
X-linked hypophosphataemic rickets, McCune–Albright syndrome/polyostotic fibrous dysplasia.
Describe Junvenile dermatomysositis + presentation
small vessel vasculopathy
heliotrope rash over the face, periorbital oedema, Gottron papules over the extensor surfaces and proximal muscle weakness.
Describe Marfan syndrome and its inheritance
AD
tall, high arched palrt, pectus excavatum, long thin digits
up and in lens dislocation. Aortic root dilatation and mitral valve prolapse
What is inheritance of achondropasia?
A.D.
50% are de novo!
What HLA type is a/w SLE?
HLA D8, DR2 and DR3
What serology is suggestive of Lupus?
anti dsDNA-75%
Anti phospholipid
ANA - 90%
rheumatoid factor - 30%
What rashes are classically seen in Lupus?
malar rash (butterfly)
discorid rash
They both classically appear on exposure to sunlight
Define jouvenile idiopathic arthritis
Chronic arthritis affecting one or more joints for > 6months
How many subtypes of JIA are there, and what are they?
(name at least 4)
7
Oligoarticular arthritits
Systemic arthritis
Polyarticular arthritis rheumatoid factor pos
Polyarticular arthritis rheumatoid factor neg
psoriatic arthritis
enthesitis-related arthritis
undifferentiated arthritis
What is the presentation of systemic Jouvenile idiopathic arthritis?
Fever > 2 weeks, usually late in the day.
Salmon pink rash
a/w hepatosplenomegaly, peluritis, pericarditis, peritonitis
What is the presentation of oligoarthritis?
4 joints or less
stiffness more common than pain
more commonly effects ankle and knees.
a/w chronic ie. painles uveitis
what is presentation of polyarticular arthritis ?
5 or more joints
RF positive hands and wrists more common
RF neg tempromandibular
What is presentation of enthesitis- related arthritis?
arthirits/ enthesitis + two of
acroiliac/lumbar pain, heel pain, anterior uveitis
often affects lower limbs
what is presentation of psoriatic arthritis ?
effects small and large joints asymmetrically
dactylitis, nail pitting, oncholysis
What type of arthritis is most associaed with HLA b27?
enthesitis- related arthritis
What JIA is NOT associated with ANA?
systemic JIA
What babies can have heart block based on which maternal condition?
SLE or Sjorgen syndrome
Anti ro/la
What part of the bone is most likely to be infected in osetomyelitis?
Metaphysis
What is classic x-ray changes for septic arthritis?
widended joint space
what is gene and locus responsible for Duchenne muscular dystrophy?
dystrophin gene
xp21.1
