William's Syndrome

Question 1

What is this describing?

Spontaneous microdeletion on chromosome 7.

Answer 1

William’s syndrome

Question 2

What is this a presentation of?
Short, elf-like face (short nose, long philtrum, wide mouth, big lips), supravalvular aortic stenosis, mild issues with fine motor and visuospatial tasks, good language skills, outgoing and social, hypercalcaemia.

Answer 2

William’s syndrome

Question 3

How is William’s syndrome diagnosed?

Answer 3

FISH or array CGH

Question 4

What is the management for William’s syndrome?

Answer 4

1. Screen for hypercalcaemia in early years of life.
2. Measure urinary calcium and renal USS for nephrocalcinosis.
3. Echo
4. Monitor BP