Skip to main content

Oesophageal Atresia Associations

  • Chapter
  • First Online:
Esophageal and Gastric Disorders in Infancy and Childhood

Abstract

Almost half of infants born with oesophageal atresia have an associated malformation. The most common anomaly involves the cardiovascular system affected in around 30 % of cases, followed by the gastrointestinal tract (28 %), genitourinary tract (14 %) and vertebral/limb defects (10 %).

A number of “syndromes” include oesophageal atresia among the combination of anomalies and include particularly the VACTERL association, CHARGE association and Potter’s syndrome.

Oesophageal atresia occurs sporadically in a number of other syndromes.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 129.00
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 169.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info
Hardcover Book
USD 249.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

References

  1. Blake KD, Russell-Eggitt IM, Morgan DW, et al. Who’s in charge? Multidisciplinary management of patients with CHARGE association. Arch Dis Child. 1990;65:217–23.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  2. Chittmittrapap S, Spitz L, Kiely EM, et al. Oesophageal atresia and associated anomalies. Arch Dis Child. 1989;64:364–8.

    Google Scholar 

  3. Czeizel A. SCHISIS-association. Am J Med Genet. 1981;10:25–35.

    Article  CAS  PubMed  Google Scholar 

  4. Ein SH, Shandling B, Wesson D, et al. Esophageal atresia with distal tracheoesophageal fistula. Associated anomalies and prognosis in 1980s. J Pediatr Surg. 1989;24:1055–9.

    Article  CAS  PubMed  Google Scholar 

  5. Felix JF, Tibboel D, de Klein A. Chromosomal anomalies in the aetiology of oesophageal atresia and tracheo-oesophageal fistula. Eur J Med Genet. 2007;50:163–75.

    Article  PubMed  Google Scholar 

  6. Genevieve D, de Pontual L, Amiel J, et al. An overview of isolated and syndromic oesophageal atresia. Clin Genet. 2007;71:392–9.

    Article  CAS  PubMed  Google Scholar 

  7. German JC, Mahour HG, Wooley MM. Esophageal atresia and associated anomalies. J Pediatr Surg. 1976;11:299–306.

    Article  CAS  PubMed  Google Scholar 

  8. Greenwood RD, Rosenthal A. Cardiovascular malformations associated with tracheoesphageal fistula and esophageal atresia. Pediatrics. 1976;57:87–90.

    CAS  PubMed  Google Scholar 

  9. Iuchtman M, Spitz L, Kiely EM, et al. Morbidity and mortality in 46 patients with the VACTERL association Israel. J Med Sci. 1992;8:281–4.

    Google Scholar 

  10. Khoury MJ, Cordero JF, Greenberg F, et al. A population study of the VACTERL association: evidence for its etiological heterogenicity. Pediatrics. 1983;71:815–20.

    CAS  PubMed  Google Scholar 

  11. Kilic SS, Gurpinar A, Yakut T, et al. Esophageal atresia and tracheo-esophageal fistula in a patient with Digeorge syndrome. J Pediatr Surg. 2003;38:E21–3.

    Article  PubMed  Google Scholar 

  12. Kutiyanawala M, Wyse RKH, Brereton RJ, et al. CHARGE and esophageal atresia. J Pediatr Surg. 1992;27:558–60.

    Article  CAS  PubMed  Google Scholar 

  13. Lee KDS, Okazaki T, Lane GJ. Esophageal atresia and tracheo-esophageal fistula associated with coarctation of the aorta, CHARGE association, and DiGeorge syndrome: a case report and literature review. Pediatr Surg Int. 2008;24:1153–6.

    Article  PubMed  Google Scholar 

  14. Marcelis CLM, de Brouwer APM. Feingold syndrome. In: Pagon RA, Bird TC, Dolan CR, Stephens K, editors. Gene reviews®. Roberta A Pagon, Seattle; 2009.

    Google Scholar 

  15. Morini F, Pacillli M, Spitz L. Bilateral anophthalmia and esophageal atresia: report of a new patient and review of the literature. Am J Med Genet. 2005;132A:60–2.

    Article  PubMed  Google Scholar 

  16. Mullassery D, Llewellyn RS, Almond SL, et al. Oesophageal atresia with cleft lip and palate: a marker for associated lethal anomalies? Pediatr Surg Int. 2008;24:815–7.

    Article  CAS  PubMed  Google Scholar 

  17. Pagon RA, Graham JM, Zonana J, et al. Coloboma, congenital heart disease, and choanal atresia with multiple; CHARGE association. J Pediatr Surg. 1981;99:223–7.

    CAS  Google Scholar 

  18. Quan L, Smith DW. The VATER association. Vertebral defects. Anal atresia. T-E fistula with esophageal atresia. Radial and renal dysplasia: a spectrum of associated defects. J Pediatr. 1973;82:104–7.

    Article  CAS  PubMed  Google Scholar 

  19. Robin NH, Feldman GJ, Aronson AL, et al. Opitz syndrome is genetically heterogenous, with one locus on Xp22, and a second locus on 22q11.2. Nat Genet. 1995;11:459–61.

    Article  CAS  PubMed  Google Scholar 

  20. Stark Z, Clarnette T, Moody A. Triad of tracheoesophageal fistula-esophageal atresia, pulmonary hypoplasia and duodenal atresia. J Pediatr Surg. 2007;42:1146–8.

    Article  PubMed  Google Scholar 

  21. Spitz L, Ali M, Brereton RJ, et al. Combined esophageal and duodenal atresia: experience with 18 patients. J Pediatr Surg. 1981;16:4–7.

    Article  CAS  PubMed  Google Scholar 

  22. Spitz L, Kiely EM, Morecroft JA, et al. At risk groups in oesophageal atresia for the 1990s. J Pediatr Surg. 1994;29:723–5.

    Article  CAS  PubMed  Google Scholar 

  23. Spitz L, Yang X, Pierro A, et al. Adverse association of oesophageal atresia and cleft lip and palate. Br J Surg. 2003;90:716–7.

    Article  CAS  PubMed  Google Scholar 

  24. Valente A, Brereton RJ. Oesophageal atresia and CHARGE association. Pediatr Surg Int. 1987;2:93–4.

    Article  Google Scholar 

  25. Weaver DD, Mapstone CL, Yu P. The VATER association. Analysis of 46 patients. Am J Dis Child. 1986;140:225–9.

    Article  CAS  PubMed  Google Scholar 

  26. Weber TR, Smith W, Grosfeld JL. Surgical experience in infants with the VATER association. J Pediatr Surg. 1980;15:849–54.

    Article  CAS  PubMed  Google Scholar 

  27. van Bokhaven H, Celli J, van Reeuwijk, et al. MYCN haploinsuffiency is associated with reduced brain size and intestinal atresia in Feingold syndrome. Nat Genet. 2005;37:465–7.

    Article  Google Scholar 

  28. Vissers LE, van Ravenswaaij CM, Admiraal R, et al. Mutations in a new member of the chromotomain gene family cause CHARGE syndrome. Nat Genet. 2004;36:955–7.

    Article  CAS  PubMed  Google Scholar 

  29. Zenteno JC, Perez-Cano HJ, Aguinaga M. Anophthalmia-esophageal atresia syndrome caused by an SOX2 gene deletion in monozygotic twin brothers with markedly discordant phenotypes. Am J Med Genet A. 2006;140:1899–903.

    Article  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Lewis Spitz .

Editor information

Editors and Affiliations

Rights and permissions

Reprints and permissions

Copyright information

© 2017 Springer-Verlag Berlin Heidelberg

About this chapter

Cite this chapter

Spitz, L. (2017). Oesophageal Atresia Associations. In: Till, H., Thomson, M., Foker, J., Holcomb III, G., Khan, K. (eds) Esophageal and Gastric Disorders in Infancy and Childhood. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-11202-7_8

Download citation

  • DOI: https://doi.org/10.1007/978-3-642-11202-7_8

  • Published:

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-642-11201-0

  • Online ISBN: 978-3-642-11202-7

  • eBook Packages: MedicineMedicine (R0)

Publish with us

Policies and ethics