Williams Syndrome – Board-Style Questions

What this deck covers

Williams syndrome in 18 board-style clinical cases with worked explanations. Each case gives you a clinical vignette, four options, the correct answer, and an explanation of why each of the other three is wrong, with the guideline or textbook it follows named on the answer.

Board-style teaching questions for paediatricians and trainees preparing for paediatric board, MRCPCH and licensing examinations. Written from published guidelines and standard paediatric textbooks, with the source named on every answer.

The 18 cases, in order

1. The sickly baby
2. Bright specks on the scan
3. Why so many tissues
4. Talks well, cannot draw
5. Everyone is her friend
6. The hand dryer
7. Spokes of a wheel
8. One event, many genes
9. Thinking about another baby
10. Floppy then stiff
11. Wet again at ten
12. The sugar test
13. Pain in the left side
14. The pressure is up
15. Worrying about everything
16. Before the dental list
17. He remembers every tune
18. Older than his years

Diagnoses and management options tested

Across the 18 cases you are asked to choose between options such as: Give a bisphosphonate by vein today and repeat it each week thereafter, Calcium laid down in the kidney tissue by the long high level, Each of these problems has arisen independently, by coincidence, She is not trying with the tasks she finds boring and repetitive, Undiscriminating friendliness, which needs an explicit safety plan, A hearing loss that makes loud sounds distorted and unpleasant, An inflammation of the front of the eye requiring urgent drops, Several unrelated conditions have happened to occur together, The chance is very small, since the change arose in her alone, A muscular dystrophy that has developed on top of the syndrome itself, A urinary infection that the laboratory has repeatedly missed, A laboratory error, since she has no symptoms at all and is not overweight, A weak bowel wall from the deletion, giving pouches unusually early, Anxiety in the clinic, which explains most high readings in children.

Clinical pearls from this deck

• High calcium here: stop the drops, drop the calcium.
• Speckled kidneys after high calcium: mineral in the tissue.
• One missing stretchy protein explains the whole list.
• Fluent talk, poor copying: the classic uneven profile.
• No wariness of strangers: write a safety plan.
• Pain from specific sounds with normal hearing is typical.

Work through the deck once for recognition, then again a week later to test yourself — each question gives the answer and explains why every other option fails.

More from this system: all genetics and metabolic case decks · pediatric reference values.