Trisomy 21

Question 1

Trisomy 21 complications

Answer 1

Dementia
Intellectual disability
Brushfield spots / cataracts
Hearing impairment
Hypotonia
Cardiac: AVSD, VSD, ASD
Respiratory: OSA
GIT: coeliac, Hirsprungs, duodenal atresia, GORD
Haem: transient myeloproliferative disorder, leukaemia
Endocrine: hypothyroid, short stature, obesity, infertility
Ortho: Atlanta-axial instability, congenital dislocation

Question 2

Trisomy 21 screening

Answer 2

FBE
TFT 
Coeliac serology 
ECHO
Hearing screen 
Spine X-ray if symptoms