Achondroplasia and Short-Limb Dysplasia – Board-Style Questions

What this deck covers

achondroplasia and short-limb dysplasia 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. Short arms, big head
2. Late in the pregnancy
3. Neither parent is affected
4. Both of them have it
5. Off the bottom of the chart
6. A head that keeps growing
7. Where the cord leaves the skull
8. Taking the pressure off
9. Noisy nights
10. A question about his size
11. Propped up in a soft seat
12. Legs that ache when he walks
13. Bowed out at the knees
14. Walking late, talking on time
15. A daily injection
16. Making the legs longer
17. Short, but the face is ordinary
18. Before he goes to theatre

Diagnoses and management options tested

Across the 18 cases you are asked to choose between options such as: Equal shortening of the trunk and of all the limb segments, A skeletal condition, since the limb bones alone have fallen away, A recessive condition carried silently by both of the parents, Half of the babies would have no copy of the altered gene at all, He belongs on the growth charts drawn for this diagnosis, Fluid accumulating inside the skull, needing a shunt today, Bleeding into the fluid spaces around the upper spinal cord, Watchful waiting with a repeat assessment in three years, A crowded upper airway from a flat midface and small nose, It does not matter, because short children weigh less anyway, Fit a rigid brace now and keep it on through the day and the night, A slipped disc pressing on one nerve root on a single side, Overgrowth of the outer leg bone relative to the shin, Both his movement and his understanding will be delayed throughout.

Clinical pearls from this deck

• Short upper limb segments, normal trunk, large head.
• Short limb bones alone, late on: a skeletal condition.
• Usually a new gene change, commoner with older fathers.
• Two affected parents: a quarter face a lethal form.
• Use the charts drawn for the condition, not the usual ones.
• A big head on its own line here is expected, not alarming.

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.