down's syndrome Flashcards
1
Q
what is it caused by
A
3 copies of chromosome 21
aka trisomy 21
2
Q
dysmorphic feautes
A
hypotonia brachycephaly short neck flattened face + nose prominent epicanthic folds upward sloping palpebral fissures single palmar crease
3
Q
brachycephaly
A
small head with flat back
4
Q
epicanthic folds
A
folds of skin covering medial portion eye and eyelid
5
Q
palpebral fissures
A
gaps between lower and upper eyelid
6
Q
complications
A
LD recurrent otitis media deafness visual probs - myopia, catarcts hypothyroidism cardiac defects atlantoaxial instability leukaemia dementia
7
Q
cardiac defects
A
VSD
ASD
PDA
ToF
8
Q
managemet
A
MDT team -OT -SALT -physio -paediatricion -GP -cardiologit etc etc
9
Q
routine follow up Ix
A
thyroid checks
ECHO
audiometry
eye checks
