Paeds - Medicine Flashcards
what is a robertsonian translocation?
long and short arms swap on acrocentric chromosomes
features of DS?
hypotonia flat occiput small low set ears almond shaped eyes single palmar crease excess back of neck skin learning disability hearing loss
what congenital heart disease are those with DS at risk of? what type of murmur?
VSD
pan systolic murmur
what causes DS?
trisomy 21
when is the combined test carried out for DS?
11-13+6 wks
what are the results of the combined test in DS?
low PAPP-A
nuchal thickness
high HCG
what does the quadruple DS test measure? when is this done?
AFP
hCG
UE3
inhibin A
16 wks
what is klienfleters?
47XXY
features of klienfleters?
wide hips gynacomastia reduced libido small testicles weak muscles infertile tall
what is turner’s?
45XO
features of turner’s?
short stature webbed neck high palate downward sloping eyes broad spaced nipples infertile
what congenital heart defects are those with turner’s at risk of?
VSD (pan systolic)
coarctation (weak femoral pulses)
what is the commonest hernia in kids? features?
indirect inguinal (through patent process vaginalis)
lateral to inferior epigastric
shows when kid cries
what are features of mesenteric adenitis?
Ix and Tx?
diffuse abdo pain
URTI
fever
US/CT
settles over time
what is toddler’s diarrhoea? Tx?
happens up to 5/6yrs due to colon immaturity
increase fat
loperamide
features of cow’s milk allergy?
2-72hrs after itch erythema eczema GORD diarrhoea usually around 6 months
Ix for cow’s milk allergy?
RAST
skin prick
Tx for cow’s milk allergy?
casein hydroxylate
rechallenge at 2yrs
Tx for GORD?
reassure
gaviscone
ranitidine
risk factors for constipation?
low fibre low fluid excess dairy lack of exercise obese