Week 3 - Connective Tissue Disorders

Question 1

what causes connective tissue disorders?

Answer 1

genetic disorders of collagen synthesis (mainly type 1) resutlting in joint hypermobility

Question 2

osteogenesis imperfecta vs connective tissue disorders?

Answer 2

osteogenesis imperfecta affects type 1 collagen of bone

connective tissue disorders affect soft tissues more than bone

Question 3

what is generalised (familial) joint laxity?

Answer 3

hypermobility of joints which usually runs in families and is inherited in a dominant manner
in 5% of normal people

Question 4

what are the possible risks in generalised ligamentous laxity?

Answer 4

people are more prone to soft tissue injury (ankle sprains) and recurrent dislocations of joints (shoulder and patella)

Question 5

what is marfan’s syndrome?

Answer 5

autosomal dominant or sporadic mutation of the fibrillin gene resulting in a tall stature with disproportionately long limbs and ligamentous laxity

Question 6

what are the associated features of marfans syndrome?

Answer 6

high arched palate
scoliosis
flattening of the chest (pectus excavatum)
eye problems
aortic aneurysm
cardiac valve incompetence

Question 7

how is marfans managed?

Answer 7

rarely require orthoapedic surgery

soft tissue stabilization of dislocating joints has bad results

Question 8

what eye problems can occur in marfans?

Answer 8

lens dislocation
retinal detachments
glaucoma

Question 9

what lung problems can occur in marfans?

Answer 9

spontaneous pneumothorax

apical blebs

Question 10

what is Ehler’s Danlos syndrome?

Answer 10

heterogenous condition which is often autosomal dominantly inherited with abnormal collagen and elastin formation

Question 11

what are the clinical features of Ehlers Danlos syndrome?

Answer 11

joint hypermobility
vascular fragility with ease of bruising
joint instability and scoliosis

Question 12

how is Ehlers Danlos syndrome treated?

Answer 12

bony surgery may be required for dislocating joints

• bleeding risk
• poor wound healing (scars, wound dihiscence)

Question 13

what is Down Syndrome?

Answer 13

trisomy of chromosome 21

Question 14

what are the MSK features of down syndrome?

Answer 14

short stature
joint laxity
possible recurrent dislocation
atlanto-axial instability

Question 15

how are MSK features of down syndrome managed?

Answer 15

dislocating joints may require stabilization