Non-VACTEIL-type anomalies are frequent in patients with esophageal atresia/tracheo-esophageal fistula and full or partial VACTERL association

EM Jong, Janine Felix, JA Deurloo, Marieke van Dooren, DC Aronson, CP Torfs, HA Heij, Dick Tibboel

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BACKGROUND: The VACTERL association is the nonrandom co-occurrence of Vertebral anomalies, Anal atresia, Cardiovascular malformations, Tracheo-esophageal fistula (TEF) and/or Esophageal atresia (EA), Renal anomalies, and/or Limb-anomalies. The full phenotype of patients with EA/TEF and other anomalies of the VACTERL spectrum of defects association is not well described in the literature. METHODS: Data on patients with EA/TEF seen in two pediatric surgical centers in the Netherlands between January 1988 and August 2006 were evaluated for defects of the VACTERL spectrum as well as non-VACTERL-type defects. The presence of two or more defects of the VACTERL spectrum in addition to EA/TEF was the criterion for inclusion in this study. A detailed description was made of all defects. RESULTS: Of 463 patients with EA and/or TEF, 107 (23.1%) fulfilled the inclusion criterion, of which seventeen cases had a recognized etiology and were excluded, leaving 90 cases (19.4%) for analysis. Other than the esophagus and the trachea, the vertebrae/ribs and the cardiovascular system were most commonly affected (68.9 and 65.6%, respectively). Interestingly, 70% of cases had additional non-VACTERL-type defects, with high occurrences for single umbilical artery (20%), genital defects (23.3%), and respiratory tract anomalies (13.3%). CONCLUSIONS: Many patients with EA/TEF and at least two other defects of the VACTERL spectrum also display non-VACTERL-type congenital anomalies. Birth Defects Research (Part A) 82:92-97, 2008. (c) 2008 Wiley-Liss, Inc.
Original languageUndefined/Unknown
Pages (from-to)92-97
Number of pages6
JournalBirth Defects Research Part A-Clinical and Molecular Teratology
Issue number2
Publication statusPublished - 2008

Research programs

  • EMC MGC-02-53-01-A
  • EMC MGC-02-96-01

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