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ENT · Oral cavity: macroglossia
Sample itemA newborn has a large tongue that protrudes from the mouth, with exomphalos and hypoglycaemia. Which syndrome is likely?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
B. Beckwith-Wiedemann syndrome
Beckwith-Wiedemann syndrome features macroglossia, abdominal wall defects, neonatal hypoglycaemia and organomegaly, with risk of embryonal tumours such as Wilms tumour. Other causes of macroglossia include Down syndrome, hypothyroidism and amyloidosis. Severe cases may need tongue reduction.
Option by option
A. Goldenhar syndrome
Goldenhar syndrome causes hemifacial microsomia.
B. Beckwith-Wiedemann syndrome (correct)
Correct. Macroglossia with exomphalos is characteristic.
C. Treacher Collins syndrome
Treacher Collins causes mandibular and malar hypoplasia.
D. Pierre Robin sequence
Pierre Robin causes a small jaw and glossoptosis.
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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