Esophageal atresia and Beckwith-Wiedemann syndrome in one of the naturally conceived discordant newborn twins: first report

Gregorio Serra; Vincenzo Antona; Mandy Schierz; Davide Vecchio; Ettore Piro; Giovanni Corsello

doi:10.1002/ccr3.1103

Esophageal atresia and Beckwith-Wiedemann syndrome in one of the naturally conceived discordant newborn twins: first report

Clin Case Rep. 2018 Jan 13;6(2):399-401. doi: 10.1002/ccr3.1103. eCollection 2018 Feb.

Authors

Gregorio Serra¹, Vincenzo Antona¹, Mandy Schierz¹, Davide Vecchio¹, Ettore Piro¹, Giovanni Corsello¹

Affiliation

¹ Mother and Child Department University of Palermo Palermo Italy.

Abstract

Recent studies report a high incidence of monozygotic twinning in Beckwith-Wiedemann syndrome. A phenotypical discordance in monozygotic twins is rare. Twinning and Beckwith-Wiedemann syndrome show higher incidence in children born after assisted reproductive techniques. We report on the first observation of esophageal atresia and Beckwith-Wiedemann syndrome in one of the naturally conceived discordant monozygotic twins.

Keywords: Assisted reproductive techniques; KCNQ1OT1 gene; buccal swab; hypomethylation; phenotypical discordance.

Publication types

Case Reports