Paediatrics - CORTEXT

Question 1

true or false: at birth, legs are normally valgus

Answer 1

false

Question 2

true or false: flat feet can be physiological

Answer 2

true

Question 3

describe mobile flat feet

Answer 3

flattened medial arch forms with dorsiflexion of the great toe

Question 4

what can cause flexible flat foot?

Answer 4

ligamentous laxity

familial trait

Question 5

true or false: flexible flat foot is only present on weight bearing

Answer 5

true

Question 6

describe rigid flat foot

Answer 6

medial arch remains flat regardless of weight bearing or dorsiflexion

Question 7

what is the likely underlying abnormality in rigid flat foot?

Answer 7

tarsal coalition

this is where the bones of the hindfoot have abnormal connection

Question 8

what is osteogenesis imperfecta?

Answer 8

a defect of the maturation and organisation of type 1 collagen

Question 9

what is another name for osteogenesis imperfecta?

Answer 9

brittle bone disease

Question 10

which inheritance pattern does osteogenesis imperfecta usually follow?

Answer 10

autosomal dominant

Question 11

list four clinical features of osteogenesis imperfecta

Answer 11

fragility fractures
short stature
blue sclerae
hearing loss

Question 12

what is the medical term for short stature?

Answer 12

skeletal dysplasia

Question 13

what is the commonest skeletal dysplasia?

Answer 13

achondroplasia

Question 14

list the four main clinical features of achondroplasia

Answer 14

disproportionately short limbs
prominent forehead
wide nose
joint laxity

Question 15

connective tissue disorders usually affect type one collagen synthesis, what type of tissue is affected by this?

Answer 15

soft tissue

Question 16

how does marfan’s syndrome arise?

Answer 16

autosomal dominant

due to mutation of fibrillin gene

Question 17

list six key clinical features of marfan’s syndrome

Answer 17

long limbs 
ligamentous laxity 
high arched palate 
scoliosis 
pectus excavatum 
cardiac issues

Question 18

what is the defect in ehlers-danlos syndrome?

Answer 18

abnormal collagen and elastin formation

Question 19

list three clinical features of ehlers-danlos syndrome

Answer 19

hypermobility
vascular fragility
easy bruising

Question 20

which pattern of inheritance do muscular dystrophies usually follow?

Answer 20

x-linked recessive

only affect boys

Question 21

how does duchenne muscular dystrophy (DMD) arise?

Answer 21

defect in the dystrophin gene involved in calcium transport

Question 22

list three main features o f duchenne muscular dystrophy

Answer 22

progressive muscle weakness
difficulty standing
eventually unable to walk

Question 23

why are people with duchenne muscular dystrophy prone to dying in their early twenties?

Answer 23

progressive cardiac and respiratory failure

Question 24

how is diagnosis of duchenne muscular dystrophy confirmed?

Answer 24

raised creatinine phosphokinase

abnormal muscle biopsy

Question 25

at what age does cerebral palsy usually occur?

Answer 25

between 2 and 3

Question 26

list some potential causes of cerebral palsy

Answer 26

genetics 
brain malformation 
intrauterine infection 
prematurity 
hypoxia 
meningitis

Question 27

what is the commonest obstetric brachial plexus palsy?

Answer 27

erb’s palsy

Question 28

which nerve roots are affected in erb’s palsy?

Answer 28

C5 and C6

Question 29

which muscles lose their motor function as a result of C5-C6 nerve root injury?

Answer 29

deltoid 
supraspinatus 
infraspinatus 
biceps 
brachialis

Question 30

what is the classic posture sign seen in erb’s palsy?

Answer 30

waiter’s tip posture

Question 31

which nerve roots are affected in klumpke’s palsy?

Answer 31

C8 and T1

Question 32

which muscles are damaged in klumpke’s palsy?

Answer 32

intrinsic hand muscles

wrist and finger flexors