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

Key Clinical Message 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 repo...

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Bibliographic Details
Published in:Clinical case reports 2018-02, Vol.6 (2), p.399-401
Main Authors: Serra, Gregorio, Antona, Vincenzo, Schierz, Mandy, Vecchio, Davide, Piro, Ettore, Corsello, Giovanni
Format: Article
Language:English
Subjects:
Assisted reproductive techniques
buccal swab
Case Report
Case Reports
hypomethylation
KCNQ1OT1 gene
phenotypical discordance
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Summary:Key Clinical Message 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. 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.
ISSN:2050-0904
2050-0904
DOI:10.1002/ccr3.1103