Dysmorphism + cardiac defect = Down syndrome
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Teaching point — how the wording changes the answer
Learning difficulty with facial dysmorphism (flat nasal bridge), hearing loss and a holosystolic murmur (AVSD/VSD) suggests a chromosomal abnormality (Down syndrome); confirm with karyotype.
Q108
6-year-old, learning difficulty, IQ 86, flat nasal bridge, hearing loss, grade 3 holosystolic murmur.
Key clue
Dysmorphism + murmur
Show answer
Karyotype (Down syndrome)