An infant boy with the typical physical findings of the Beckwith-Wiedemann syndrome but without hypoglycemia is reported. Complete evaluation of endocrine, renal, and hepatic functions in this patient at 4½ months and 15 months of age revealed no significant abnormality. This recently described entity consists of exomphalos, macroglossia, and gigantism and is also known as EMG syndrome. Neonatal hypoglycemia has also been reported in some of the patients. Early diagnosis is important in order to recognize and treat hypoglycemia. Long-term follow-up must include prevention of speech and dental problems and close observation for the development of intra-abdominal malignancy. Genetic counseling for presumed autosomal recessive inheritance should be provided.
Eaton AP, Maurer WF. The Beckwith-Wiedemann Syndrome. Am J Dis Child. 1971;122(6):520–525. doi:10.1001/archpedi.1971.02110060090016
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