Monozygotic twins concordant for tracheo-esophageal fistula and discordant for the VATER association.
Monozygotic female twins were concordant for tracheo-esophageal fistula (TEF); and one twin also manifested other anomalies in the VATER association, including agenesis of the female reproductive tract. Review of the literature discloses a familial tendency for recurrence of TEF and a high concordance rate in monozygotic twins, indicating a significant genetic influence for the isolated anomaly. In the case of the VATER association, the sporadic occurrence of affected individuals and discordance in twins implicates the effect of non-genetic factors.
D000015:Abnormalities, Multiple / Q000235:genetics*; D001006:Anus, Imperforate / Q000235:genetics; D004200:Diseases in Twins; D004947:Esophagus / Q000002:abnormalities; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007668:Kidney / Q000002:abnormalities; D011247:Pregnancy; D011884:Radius / Q000002:abnormalities; D013116:Spinal Cord / Q000002:abnormalities; D014138:Tracheoesophageal Fistula / Q000235:genetics*; D014430:Twins, Monozygotic; D014621:Vagina / Q000002:abnormalities