Noonan Syndrome – Board-Style Questions

What this deck covers

Noonan 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. Puffy hands and feet
2. A family of conditions
3. The scan before birth
4. Bleeding after the tonsils
5. The first eighteen months
6. Spots that came later
7. A high count in a baby
8. Fluid in the chest
9. Neither testis is down
10. The shape of his chest
11. Shorter than the family
12. The eyelid is drooping
13. What to expect of lessons
14. Later than his friends
15. A lump in the neck
16. Aching after games
17. Looking at both parents
18. What adult life looks like

Diagnoses and management options tested

Across the 18 cases you are asked to choose between options such as: Protein loss through the kidneys producing generalised swelling, Overactive signalling along one shared chemical pathway in cells, A heart defect on its own, which explains all of these findings, Poor surgical technique, which is the usual cause of bleeding like this, This difficulty is severe now but usually settles before two years, Multiple moles carrying a high risk of malignant change before long, A bacterial infection producing a marked rise in the white cells, Antibiotics by vein for a fortnight for presumed empyema here, Fertility is often reduced in men here, even after early surgery, A curvature of the spine pushing the ribs outwards on one side only, Nothing at all, because height is fixed by the underlying genetic change, Observation alone, since the lid will usually lift as she grows older, Mild difficulty affects about a third, most in mainstream school, He has failed puberty completely and will need lifelong treatment.

Clinical pearls from this deck

• Non-pitting puffy hands with webbing: lymph channels.
• One overactive signalling pathway, several syndromes.
• Fluid before birth with normal chromosomes: test the genes.
• Easy bruising here: assess properly before any operation.
• Feeding is worst in year one and settles in year two.
• Dark spots multiplying in childhood: the related variant.

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.