Questions

Question 1

Amennorhea + anosmia or small testes + anosmia

Answer 1

Kallman’s syndrome

Question 2

what is the chromosomal pattern for Kallman’s?

Answer 2

46XY

Question 3

What are the 4Fs associated with DDH?

Answer 3

• First born
• FH
• Female
• Feet breech

Question 4

what organism should be suspected with foul smelling, greasy diarrhoea after a camping trip where food and drink has been scavenged from the land?

Answer 4

Giardia lambia from contaminated water

Question 5

An infant girl is born with a webbed neck, hypertension and audible ejection systolic murmur.

Answer 5

Turner’s syndrome

Question 6

A neonate boy is born with cleft lip and palate, low set ears and polydactyly. The child survives for only three weeks.

Answer 6

Patau’s syndrome

Question 7

An infant boy is born with hypotonia, epicanthic folds and single palm creases.

Answer 7

Down’s syndrome

Question 8

What is can mothers do to prevent LBW in neonates?

Answer 8

Smoking cessation

Question 9

What is meconium?

Answer 9

First stool passed by the child

Question 10

What is the condition associated with absent red eye defect?

What is usually related to in infants?

Answer 10

Retinoblastoma

In infants will be associated with inheritance of AD defect in Rb tumour suppressor gene

Question 11

What is the first sign of puberty in females?

Answer 11

Breast budding

Question 12

When does secondary lactose intolerance usually present? how?

Answer 12

After an episode of viral gastroenteritis

Usually presents as frothy, loose stools
Abdominal bloating and gurgling of the stomach

Question 13

Guillain barre syndrome

Answer 13

Immune mediated demyelination of the peripheral nervous system

• Ascending paralysis
• Loss of deep tendon reflexes
• Tingling sensations

Question 14

What is a tonic seizure?

Answer 14

Hypertonia

Stiffness on both sides of the body

Question 15

what is a clonic seizure?

Answer 15

Movement of limbs

If this episode occurs more than once= myoclonic

Question 16

What is the difference between an absence seizure and an atonic seizure?

Answer 16

Absence seizure: patient blanks out for a few seconds

Atonic: also known as drop attacks- patient loses all tone and drops to the ground

Question 17

Life threatening asthma

Answer 17

33 92 CHEST 
PEFR <33% 
SATS <92% 
Cyanosed 
Hypotension 
Exhaustion 
Silent chest 
Tachycardia

Question 18

How does NEC present?

Answer 18

• Distended bowel with intramural gas
• Occurs in the first few weeks from birth
• Associated with consumption of cows milk
• Neonates unwell
• May Show blood in rectum