Syndromes

Question 1

What are the presenting features of Liddle’s syndrome?

Answer 1

Hypertension and hypokalaemia

Liddle’s syndrome = autosomal dominant disorder mimicking hyperaldosteronism.

Question 2

What is the most common cardiac defect in Turner’s syndrome?

Answer 2

Bicuspid aortic valve

Question 3

What triad is seen in Plummer-Vinson syndrome?

Answer 3

• Dysphagia (due to oesophageal webs)
• Glossitis
• Iron-deficiency anaemia

Question 4

What chromosomal abnormality is seen in Kleinfelter’s syndrome?

Answer 4

47 XXY

Question 5

What is Charles-Bonnet syndrome?

Answer 5

Hallucinations (visual or auditory) occurring in clear consciousness, generally against background of visual impairment.

Question 6

What is the most common cardiac defect seen in Down’s Syndrome?

Answer 6

Endocardial cushion defect

Question 7

Which syndrome is associated with profound deafness and prolonged QT interval?

Answer 7

Jervell and Lange-Nielsen syndrome

Question 8

Which protein is affected by mutation in Marfan’s syndrome?

Answer 8

Fibrillin-1