Paediatrics - CORTEXT Flashcards
true or false: at birth, legs are normally valgus
false
true or false: flat feet can be physiological
true
describe mobile flat feet
flattened medial arch forms with dorsiflexion of the great toe
what can cause flexible flat foot?
ligamentous laxity
familial trait
true or false: flexible flat foot is only present on weight bearing
true
describe rigid flat foot
medial arch remains flat regardless of weight bearing or dorsiflexion
what is the likely underlying abnormality in rigid flat foot?
tarsal coalition
this is where the bones of the hindfoot have abnormal connection
what is osteogenesis imperfecta?
a defect of the maturation and organisation of type 1 collagen
what is another name for osteogenesis imperfecta?
brittle bone disease
which inheritance pattern does osteogenesis imperfecta usually follow?
autosomal dominant
list four clinical features of osteogenesis imperfecta
fragility fractures
short stature
blue sclerae
hearing loss
what is the medical term for short stature?
skeletal dysplasia
what is the commonest skeletal dysplasia?
achondroplasia
list the four main clinical features of achondroplasia
disproportionately short limbs
prominent forehead
wide nose
joint laxity
connective tissue disorders usually affect type one collagen synthesis, what type of tissue is affected by this?
soft tissue
how does marfan’s syndrome arise?
autosomal dominant
due to mutation of fibrillin gene
list six key clinical features of marfan’s syndrome
long limbs ligamentous laxity high arched palate scoliosis pectus excavatum cardiac issues
what is the defect in ehlers-danlos syndrome?
abnormal collagen and elastin formation
list three clinical features of ehlers-danlos syndrome
hypermobility
vascular fragility
easy bruising
which pattern of inheritance do muscular dystrophies usually follow?
x-linked recessive
only affect boys
how does duchenne muscular dystrophy (DMD) arise?
defect in the dystrophin gene involved in calcium transport
list three main features o f duchenne muscular dystrophy
progressive muscle weakness
difficulty standing
eventually unable to walk
why are people with duchenne muscular dystrophy prone to dying in their early twenties?
progressive cardiac and respiratory failure
how is diagnosis of duchenne muscular dystrophy confirmed?
raised creatinine phosphokinase
abnormal muscle biopsy
at what age does cerebral palsy usually occur?
between 2 and 3
list some potential causes of cerebral palsy
genetics brain malformation intrauterine infection prematurity hypoxia meningitis
what is the commonest obstetric brachial plexus palsy?
erb’s palsy
which nerve roots are affected in erb’s palsy?
C5 and C6
which muscles lose their motor function as a result of C5-C6 nerve root injury?
deltoid supraspinatus infraspinatus biceps brachialis
what is the classic posture sign seen in erb’s palsy?
waiter’s tip posture
which nerve roots are affected in klumpke’s palsy?
C8 and T1
which muscles are damaged in klumpke’s palsy?
intrinsic hand muscles
wrist and finger flexors
