6533b7dbfe1ef96bd12715c8
RESEARCH PRODUCT
Esophageal atresia and Beckwith–Wiedemann syndrome in one of the naturally conceived discordant newborn twins: first report
Giovanni CorselloVincenzo AntonaMandy SchierzEttore PiroDavide VecchioGregorio Serrasubject
0301 basic medicinePediatricsmedicine.medical_specialtycongenital hereditary and neonatal diseases and abnormalitiesbuccal swabAssisted reproductive techniquesBuccal swabBeckwith–Wiedemann syndromeCase ReportCase Reports030105 genetics & heredity03 medical and health sciencesmedicinebusiness.industryIncidence (epidemiology)Monozygotic TwinningGeneral MedicineKCNQ1OT1 genemedicine.disease030104 developmental biologyAtresiaAssisted reproductive techniques buccal swab hypomethylation KCNQ1OT1 gene phenotypical discordance.phenotypical discordanceKCNQ1OT1 genebusinesshypomethylationdescription
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.
| year | journal | country | edition | language |
|---|---|---|---|---|
| 2018-01-01 |