Week 3 Flashcards
what is osteogenesis imperfecta
a.k.a brittle bone disease
defect of maturation and organisation of type 1 collagen fibres
signs/symptoms of osteogenesis imperfecta
multiple fragility fractures in childhood
short stature with multiple deformities
blue sclera
loss of hearing
what is Marfan’s syndrome
mutation of the fibrillin gene resulting in tall stature with disproportionately long limbs and ligamentous laxity.
what are the associated features of Marfan’s syndrome
high arched palate
scoliosis
flattening of the chest (pectus excavatum)
lens disclocation
retinal detachement
aortic aneurysm and cardiac value incompetence
what is Ehlers-Danlos syndrome
abnormal elastin and collagen formation
symptoms/signs of EDS
joint hyper mobility
vascular fragility with ease of bruising
joint instability
scoliosis
what is Erb’s palsy
injury to C5 and C6 nerve roots resulting in motor loss of deltoid, supraspinatus, infraspinatus, biceps and brachilais muscles.
what does Erb’s palsy cause
internal rotation of the humerus
classic waiter’s tip posture
what is Tx of Erb’s palsy
physiotherapy to prevent contractures
what is used to predict prognosis in Erb’s palsy
bicep function by 6 months
what is affected in Klumpke’s palsy
C8 and T1 roots
what is the normal knee alignment of children at birth
varus knees
bow legs
what does knee alignment progress to at age 3
10 to 15 degree valgus
knock knees
when does knee alignment become ‘normal’
age 7-9
what does a valgus deformity cause
more knock knee appearance
larger gap than normal between feet/ankles
