down's syndrome

Question 1

findings on examination

think general -> head -> hands -> feet

Answer 1

general - muscular hypotonia
hyperflexibility

head:
eyes - brushfield spots (around iris)
brachycephaly
flat nasal bridge

mouth:
high arched palate
protruding tongue

hands:
single palmar crease
short little finger
short broad handds

feet:
sandal gap - between hallux and second toes

Question 2

common congenital heart defects assoc with Down’s syndrome

Answer 2

AVSDs
persistent PDA
tetralogy of fallot

Question 3

other conditions associated with Down’s syndrome?

Answer 3

ent - conductive, sensorineural, or mixed hearing loss
opth - cataracts
GI - oesoph / duodenal atresia / hirschprungs
endo - hypothyroidism
neuro / psych - LD / behavioural problems / seizures ?epilepsy / increased risk of alzheimers
haem - increased risk AML / ALL