Genetic Conditions

Question 1

Down’s syndrome

Answer 1

trisomy 21

features:
single palmar crease
epicanthic folds 
brush field spots in iris
protruding tongue
small low-set ears
round flat face

Question 2

What cardiac complications are common in Down syndrome

Answer 2

atrial septal defect

patent ductus arteriosus

Question 3

Management of Down’s syndrome

Answer 3

genetic counselling
paediatrics assessment
education
MDT

Question 4

Complications of Down’s syndrome

Answer 4

learning difficulties
short stature
repeated respiratory infections 
acute lymphoblastic leukaemia
hypothyroidism
Alzheimer's disease

Question 5

Turner’s Syndrome

Answer 5

45 XO, 45X
affects females only

features:
short stature
widely spaced nipples
webbed neck
primary amenorrhoea
high arched palate

Question 6

what cardiac complications are common Turner’s Syndrome

Answer 6

bicuspid aortic valve

coarctation of aorta

Question 7

management of Turner’s syndrome

Answer 7

growth hormone therapy

oestrogen replacement