Belgian Journal of Paediatrics
Beckwith-Wiedemann Syndrome in a Three-Month-Old Child
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Keywords

Beckwith-Wiedemann syndrome
macroglossia
facial hemihypertrophy
child

Categories

How to Cite

Gubbelmans, N., Destree, A., & Bendahmane, M. (2024). Beckwith-Wiedemann Syndrome in a Three-Month-Old Child. Belgian Journal of Paediatrics, 26(4), 311–313. Retrieved from https://belgjpaediatrics.com/index.php/bjp/article/view/337

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.

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