Beckwith-Wiedemann Syndrome: Influence of the genetic pattern on the clinical picture

Abstract

Beckwith-Wiedemann Syndrome (BWS) is a condition associated with macroglossia, omphalocele, macrosomia and hypoglycemia, in addition to increased susceptibility to malignancies, especially Wilm's tumor and hepatoblastoma. Over the past few years, a clear pattern is emerging revealing a close link between the genetic pattern, clinical presentation and risk of developing malignancies. We report two cases of BWS seen recently in our neonatal unit to illustrate this aspect of the condition.

Beckwith-Wiedemann Syndrome (BWS) is a condition associated with macroglossia, omphalocele, macrosomia and hypoglycemia, in addition to increased susceptibility to malignancies, especially Wilm's tumor and hepatoblastoma. This overgrowth-malformation syndrome has been linked to chromosome 11 p15, a region with many imprinted genes [1]. There has been a great deal of interest in the underlying genetic pattern in BWS especially since it has been shown to influence the clinical presentation as well as the risk of developing tumors (Wilm's tumor and Hepatoblastoma).

We report two cases of BWS seen recently in our neonatal unit to illustrate the varied clinical presentation and underlying genetics of the condition. This is followed by a discussion focused on the various genetic patterns underlying the problem, and its possible influence on the clinical presentation.