Paediatrics

Question 1

Features of Edwards Syndrome (Trisomy 18)

Answer 1

Micrognathia
rocker-bottom feet
Over lapping fingers
Low set ears

Question 2

Features of Prader Willi’s Syndrome

Answer 2

Causes behavioural problems, intellectual disability and short stature. delayed puberty and constant hunger leading to obesity.
Hypogonadism and hypotonia

Question 3

Features of Williams Syndrome

Answer 3

Short stature
Learning difficulties
Friendly, extrovert personality
Transient neonatal hypercalcaemia
Supravalvular aortic stenosis

Question 4

Features of Pierre Robins syndrome

Answer 4

Micrognathia
Posterior displacement of the tongue (may result in upper airway obstruction)
Cleft palate

Question 5

Features of Noonan syndrome

Answer 5

Webbed neck
Pectus excavatum
Short stature
Pulmonary stenosis

Question 6

Features of Fragile X Syndrome

Answer 6

Learning difficulties
Macrocephaly
Long face
Large ears
Macro-orchidism

Question 7

Features of Patau syndrome (Trisomy 13)

Answer 7

Microcephalic, small eyes
Cleft lip/palate
Polydactyly
Scalp lesions

Question 8

What is Perthes disease?

Answer 8

Avascular necrosis of the femoral head.
Typically starts between ages 4-8y, more common in boys
Features
- hip pain: develops progressively over a few weeks
- limp
- stiffness and reduced range of hip movement
- x-ray: early changes include widening of joint space, later changes include decreased femoral head size/flattening

Question 9

What are the features of SUFE

Answer 9

Overweight mate with a painful gait that extenally rotates - typically overweight 10-15yr olds

Question 10

Differentials for limping child depending on age

Answer 10

THC IS SOGOOD
0-5y: THC
Toddlers fractures
Haemophilia
Congenital dysplasia of the hip

5-10y: IS
Idioapathic AVN of the hip (Perthes disease)
Synovitis

10-15y: S O GOOD
SUFE
OsGOOD schlatters

Others:
Malignancy,
osteomyelitis
rheumatological
msk

Question 11

What are the features of pyloric stenosis?

Answer 11

Usually within first 2-4 weeks of age but can up to 4 months, more likely in males
‘projectile’ vomiting, typically 30 minutes after a feed
constipation and dehydration may also be present
a palpable mass may be present in the upper abdomen
hypochloraemic, hypokalaemic alkalosis due to persistent vomiting

Question 12

What is tested for in newborn heel prick test?

Answer 12

Sally Had Caught Gracious Colin InA Particularly Mad Mood:

Sickle cell disease
Homocystinuria
Cystic fibrosis
Glutaric aciduria type 1
Congenital hypothyroidism
Isovaleric Acideamia
Phenylketonuria
Maple syrup urine disease
MCADD (medium-chain acyl-CoA dehydrogenase deficiency)