Paediatrics

Question 1

Key features of Patau Syndrome

Answer 1

Patau = polydactyly (can count to 13 on their hands - chromosome 13)

Question 2

Key features of Noonan Syndrome

Answer 2

Noonan = No neck

Question 3

Key features of Noonan Syndrome

Answer 3

Noonan = No neck

Question 4

Key features of Edward’s Syndrome

Answer 4

Edward syndrome = Prince Edward has a royal chin - micrognathia, microcephaly, overlapping digits

Question 5

Key features of Fragile X

Answer 5

The X in Fragile X is for extra, hence big ears, big heads and big balls

Question 6

Stepwise management of bed wetting i.e. nocturnal enuresis

Answer 6

BED
B- Behavioural modifications
E-Enuresis alarms
D-Desmopressin

Question 7

What feed trial should be tried for a formula-fed baby is suspected of having mild-moderate cow’s milk protein intolerance

Answer 7

Extensive hydrolysed formula should be tried

Question 8

What feed trial should be tried for a formula-fed baby is suspected of having severe cow’s milk protein intolerance or if they had no response to extensive hydrolysed formula

Answer 8

Amino acid based formula