Epigenetic characterization of discordant twins with Beckwith Wiedemann syndrome, with clinical findings at birth and neurodevelopmental follow-up

Introduction: Beckwith-Wiedemann syndrome (BWS) is one of the most frequent congenital disorders that is predominantly caused by epigenetic defects. Monozygotic discordant twins are ideal to study those defects since they are, by conventional genetics, identical. Case: The monochorial, biamniotic twin pregnancy of this GIIPI mother was complicated by discordant growth of the twins, and feto-fetal transfusion. Upon their preterm birth at 31+1 weeks gestation, the male twins were found discordant also for BWS by clinical criteria: among other findings, the blood-receiving LGA twin had macroglossia. With informed p…