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.
