A 1-day-old preterm neonate with a large tongue (Fig).

BWS was suspected on the basis of the clinical findings (large for gestation, macroglossia, small omphalocele, and nephromegaly) and confirmed with a methylation test. Probe amplification was performed to assess for deletions, duplications, and methylation defects in the imprinting center 1 (IC1) (H19) and IC2 (LIT1) regions on chromosome 11p15. The testing revealed hypermethylation in the IC1 (H19) and hypomethylation in the IC2 (LIT1) regions. These findings suggested an abnormality of the maternally derived copy of IC1 and IC2 critical regions, which could result from paternal uniparental disomy of chromosome 11.

The infant’s low serum glucose concentration was treated successfully with 10% dextrose infusion and resolved within 2 hours. The infant required mechanical ventilation for a month and underwent extubation to receive noninvasive intermittent positive pressure ventilation. Echocardiography showed a structurally normal heart. Ultrasonography of the abdomen revealed large...

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