Discussion in 'Spot Diagnosis' started by J.P.C. Peper, Jun 24, 2012.
What's your diagnosis?
I'll post the correct answer in about three days!
beckwith wiedemann syndrome
Beckwith Wiedemann syndrome
Yes, it's Beckwith-Wiedemann syndrome.
A genetic condition caused by a mutation in chromosome 11. Classic signs include exomphalos, macroglossia and gigantism; therefore it's sometimes also referred to as EMG-syndrome. Other possible findings include ear pits (or ear creases) and organomegaly.
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