The Dysmorphic Infant – Board-Style Questions

What this deck covers

the dysmorphic infant 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 big head, a well baby
2. Keeping the record
3. Back to the pregnancy
4. Squashed, not built wrong
5. Adding them up
6. The family album
7. Knowing when to stop
8. Who else has this?
9. Three lines on one chart
10. Judged by eye
11. Two senses to check
12. A tag and a pit
13. One leg longer
14. The first conversation
15. Words in the notes
16. Just one small thing
17. The radiographs
18. Further back in the story

Diagnoses and management options tested

Across the 18 cases you are asked to choose between options such as: Arrange urgent imaging of the brain to look for excess fluid inside it, Photographs with a ruler in view, taken with written consent, Ask how much weight she gained between her booking visit and delivery, A chromosome disorder that the microarray has failed to detect in him, Three or more small unusual features make a hidden major one likely, Send an urgent chromosomal microarray on the baby before anything else, Send a further panel of genes every six months from now onwards, Send the microarray on the baby and simply wait for the report, Plot length, weight and head circumference together and compare them, Accept the opinion of the more experienced of the two clinicians, Wait for the exome result before arranging any other test or referral at all, A cataract that will appear during the first year of his life, Surveillance for embryonal tumours through early childhood, Name the syndrome she suspects so that they can read about it.

Clinical pearls from this deck

• Measure the parents’ heads before scanning the baby.
• Photograph the newborn face early, to scale, with consent.
• Drugs, movements and liquor: ask the pregnancy again.
• Low liquor squashes a normal baby into an odd shape.
• Three minor oddities: go looking for a major one.
• A family face is a family trait, not a finding.

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.