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Pediatrics · Genetic and metabolic disorders: Down syndrome associations
Sample itemWhich complication in a child with Down syndrome requires screening before sports participation and anaesthesia?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
C. Atlantoaxial instability
Down syndrome is associated with hypothyroidism, atlantoaxial instability, leukaemia, coeliac disease and early Alzheimer disease. Cervical spine instability poses a risk during neck manipulation and certain sports.
Option by option
A. Marfanoid habitus
Marfanoid habitus is not part of Down syndrome.
B. Pheochromocytoma
Pheochromocytoma is not associated.
C. Atlantoaxial instability (correct)
Correct. Atlantoaxial instability needs assessment.
D. Hyperthyroidism as the commonest endocrine problem
Hypothyroidism, not hyperthyroidism, is the commonest endocrine association.
Source note: Original NextPrep sample item — pending expert review. This item is original practice material awaiting independent expert review, so confirm important facts in a standard textbook.
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