paed genetics Flashcards
1
Q
what are associated problems with Down syndrome ?
A
learning disability congenital heart disease hypothyroidism immunity early onset Alzheimer disease
2
Q
what is VATER association ?
A
vertebral anomolies/VSD
anorectal atresia
tracheo-eosophageal fistula
radial anomalies
3
Q
what are features of Turner syndrome ?
A
lymphoedema - puffy feet
increased carrying angle, low hairline, wide nipples, sandal gap
short stature
mild learning difficulty
coarctation or aorta
hypothyroidism
UTI, osteoporosis, HTN
primary amenorrhoea, infertility
4
Q
what are features of 22q11 deletion ?
A
cleft palate
abnormal facies
thymic hypoplasia/immune deficiency
heart problems
