Osteogenesis Imperfecta – Board-Style Questions

What this deck covers

osteogenesis imperfecta 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 faulty building block
2. Why the whites are blue
3. Blue eyes, no breaks
4. Grey teeth
5. Islands in the vault
6. Turning up the volume
7. Passing it on
8. Both of their children
9. How the bones break
10. The same spot again
11. A baby in trouble
12. Confirming it
13. The drip every few months
14. Straightening the thigh
15. Worse when he coughs
16. In the pool
17. Reading the report
18. Bendy and bruised

Diagnoses and management options tested

Across the 18 cases you are asked to choose between options such as: Dystrophin, the protein that anchors the muscle membrane, A thin sclera, which lets the dark layer beneath it show through, Blue sclerae in an infant confirm brittle bone disease immediately, Normal shedding of the first teeth, which always look grey, Extra small bones within the sutures of the skull vault, Glue ear from repeated infections of the middle ear throughout childhood, Sporadic in every case, so no child of his would be at any risk, Exposure to something in the home that both children have shared, Fractures after very little force that heal at the usual speed, An infection of the bone that keeps returning to the same place, A moderate form, with fractures beginning after walking starts, Measurement of the serum calcium and phosphate, which are diagnostic here, Bisphosphonate infusions, which lower the fracture rate and the bone pain, Removal of the bowed section of bone, leaving a shorter leg.

Clinical pearls from this deck

• One faulty collagen explains bone, eye and ear.
• Thin sclera, dark layer beneath, blue eyes.
• Blue sclerae alone mean nothing in a well infant.
• Grey chipping teeth are collagen, not decay.
• Small bones inside the sutures fit the diagnosis.
• Test hearing from adolescence in every case.

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.