Marfan Syndrome and the Tall Child – Board-Style Questions

What this deck covers

Marfan syndrome and the tall child 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. A tape measure in clinic
2. Not enough to say yet
3. Sending the blood test
4. Worried about being tall
5. Tall since he was a baby
6. Skin that stretches
7. Which tall child to refer
8. A dip in the chest
9. Stiff hips at seventeen
10. Marks on the skin
11. Elbows that stop short
12. Something slipped while turning
13. Sitting at the back of the class
14. A lens out of place
15. A crowded mouth
16. A lump in the groin
17. Aching after games
18. Pain after a few lines

Diagnoses and management options tested

Across the 18 cases you are asked to choose between options such as: A head circumference that is larger than expected for his height, Reassessment through adolescence, since features appear with growth, A full blood count and inflammatory markers taken today, Nothing can be discussed until she has finished growing entirely, An overgrowth syndrome with a large head and learning difficulty, A disorder of fibrillin with displaced lenses and a high palate, Tall parents on both sides of the family at once, It must be done before the age of ten or never at all, The socket has deepened so the head sits inside the pelvic brim, Evidence of an excess of steroid hormone, needing tests now, It is unrelated and should simply be recorded, Weak thigh muscles from a disorder of the muscle fibres, Short sight, which is the commonest eye problem in this condition, The lens will dissolve within a very few weeks if it is left in place.

Clinical pearls from this deck

• Span above height, short upper body: measure it.
• Follow the equivocal child through adolescence.
• Gene testing settles an incomplete clinical picture.
• Height-limiting hormones are history, not treatment.
• Big from birth, big head, delayed: overgrowth syndrome.
• Stretchy skin and papery scars point to collagen.

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 MSK and orthopaedics case decks · pediatric reference values.