Paediatrics – MCQ 20 – Baby with cleft lip, cleft palate, microcephaly, small eyes.

A baby presenting with multiple deformities, cleft lip, cleft palate, microcephaly, small eyes, scalp defect and polydactyly. Probable diagnosis is?
a) Trisomy 13
b) Trisomy 18
c) Trisomy 21
d) Monosomy 2

Correct answer : a) Trisomy 13

The clinical features are suggestive of Patau syndrome – trisomy 13.

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