Abstract
Beckwith-Wiedemann syndrome (BWS) is the most common pediatric overgrowth syndrome. The reported prevalence ranges from 1/10,000 to 1/13,700.
Most cases of BWS are sporadic with a recurrence risk of less than 1% in the family, but depending on the genetic mutation, the recurrence risk may be as high as 50%.
Patients with BWS have an increased risk of neonatal hypoglycemia and the development of embryonal tumors during childhood.
We present the case of a 3-month-old child who presented to the general pediatrics department with macroglossia and hemifacial hypertrophy. Molecular genetics revealed an abnormal methylation pattern at 11p15.5 region confirming the diagnosis of BWS.