Epidemiology and genetics

  • A. Bankier
  • J. Brady
  • N. A. Myers


Although oesophageal atresia and tracheo-oesophageal fistula are relatively common birth defects, little is known of their genetics and epidemiology. Most cases have been sporadic with occasional reports of familial occurrence. On the basis of the familial reports, some authors have concluded that genetic factors are important (Il’ina and Lurie, 1984; Pfeiffer, 1986). Other reports based on retrospective studies have suggested environmental and teratogenic factors (Warkany et al., 1948; Ingalls and Prindle, 1949) with no conclusive evidence for any specific aetiological agent. Reports on the experience of various centres have concentrated on the outcome of the surgical management of indexed cases. Population and family studies have been lacking.


Esophageal Atresia Pyloric Stenosis Fanconi Syndrome Familial Occurrence Oesophageal Atresia 
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  1. Babbott, J. G. and Ingalls, T. H. (1961) Tracheo-oesophageal fistula occurring in Pennsylvania. Q. Rev. Pediatr., 16, 86–92.PubMedGoogle Scholar
  2. Bankier, A., McGill, J. J., Danks, J. J., McGill, J. A. and Danks, D. M. (1988) Dysmorphology: problems in nomenclature. Dysmorphol. Clin. Gen., 2, 24–50.Google Scholar
  3. Barry, J. E. and Auldist, A. W. (1974) The VATER association. One end of a spectrum of anomalies. Am. J. Dis. Child., 128, 769–71.PubMedGoogle Scholar
  4. Bianchine, J. W., Burney, N., Moore, R. et al. (1976) Esophageal atresia with tracheo-esophageal fistula in four male members of a kindred. South. Med. J., 69, 1098–9.PubMedCrossRefGoogle Scholar
  5. Blank, R. H., Prillaman, P. E. and Minor, G. R. (1967) Congenital esophageal atresia with tracheo-esophageal fistula occurring in identical twins. J. Thor. Cardiovasc. Surg., 53, 192–6.Google Scholar
  6. Chetcuti, P., Myers, N. A., Phelan, P. D. et al. (1988) Adults who survived repair of congenital oesophageal atresia and tracheo-oesophageal fistula. Br. Med. J., 297, 344–6.CrossRefGoogle Scholar
  7. Copleman, B., Cannata, B. V. and London, W. (1952) Tracheo-esophageal anomaly in siblings. J. Med. Soc. NJ., 47, 415.Google Scholar
  8. Cozzi, F. and Wilkinson, A. W. (1975) Low birth weight babies with oesophageal atresia or tracheo-oesophageal fistula. Arch. Dis. Child., 50, 791–5.PubMedCrossRefGoogle Scholar
  9. Cudmore, R. E. (1978) in Neonatal Surgery (eds P. P. Rickham, J. Listed and I. M. Irvine), Butterworths, London, pp. 191–2.Google Scholar
  10. Czeizel, A. and Ludanyi, I. (1985) An aetiological study of the VACTERL-association. Eur. J. Pediatr., 144, 331–7.PubMedCrossRefGoogle Scholar
  11. Dennis, N. R., Nicholas, J. L. and Kovar, I. (1973) Oesophageal atresia: 3 cases in 2 generations. Arch. Dis. Child., 48, 980–2.PubMedCrossRefGoogle Scholar
  12. Edwards, J. H. (1960) The simulation of Mendelism. Acta Genet., 10, 63–70.PubMedGoogle Scholar
  13. Engel, P. M. A., Vos, J. L. M., de Vries, J. A. et al. (1970) Esophageal atresia with tracheo-esophageal fistula in mother and child. J. Pediatr. Surg., 5, 564–5.PubMedCrossRefGoogle Scholar
  14. Erichsen, G., Hauge, M., Madsen, C. M. et al. (1981) Two-generation transmission of oesophageal atresia with tracheo-oesophageal fistula. Acta Paediatr. Scand., 70, 253–4.PubMedCrossRefGoogle Scholar
  15. Forrester, R. M. and Cohen, S. J. (1970) Esophageal atresia associated with an ano-rectal anomaly and probable laryngeal fissure in three siblings. J. Pediatr. Surg. 5, 674–5.PubMedCrossRefGoogle Scholar
  16. Fujimoto, S. and Manabe, A. (1962) Two cases, sister and brother, with esophageal atresia associated with tracheo-oesophageal fistula. Adv. Obstet. Gynecol. (Osaka), 14, 155–8.Google Scholar
  17. Glasson, M. (1990) Personal communication.Google Scholar
  18. Grieve, J. E. and McDermott, J. E. (1939) Congenital atresia of the oesophagus in two brothers. Can. Med. Assoc. J., 41, 185–6.PubMedGoogle Scholar
  19. Haight, C. (1957) Some observations on esophageal atresias and tracheo-esophageal fistulas of congenital origin. J. Thorac. Surg., 34, 141–72.PubMedGoogle Scholar
  20. Hausmann, P. F., Close, A. S. and Williams, L. P. (1957) Occurrence of tracheo-esophageal fistula in 3 consecutive siblings. Surgery, 41, 542–3.PubMedGoogle Scholar
  21. Holden, M. P. and Wooler, G. H. (1970) Tracheo-oesophageal and oesophageal atresia: results of 30 years’ experience. Thorax, 25, 406–12.PubMedCrossRefGoogle Scholar
  22. Il’ ina, E. G. and Lurie, I. V. (1984) Genetics of congenital esophageal defects. Genetics, 18, 463–4.CrossRefGoogle Scholar
  23. Ingalls, T. H. and Prindle, R. A. (1949) Esophageal atresia with tracheo-esophageal fistula. Epidemiologic and teratologic implications. N. Engl. J. Med., 240, 987–95.PubMedCrossRefGoogle Scholar
  24. Jacobs, R. G. and Papper, E. M. (1959) Anaesthetic management of atresia of the esophagus and tracheo-esophageal fistula: a review of seven years’ experience and 72 cases. NY State J. Med., 59, 995–1002.Google Scholar
  25. Knox, E. G. (1959) Secular pattern of congenital oesophageal atresia. Br. J. Prev. Soc. Med., 13, 222–8.PubMedGoogle Scholar
  26. Knox, E. G. (1971) Epidemics of rare diseases. Br. Med. Bull., 27, 43–7.PubMedGoogle Scholar
  27. Lanman, T. H. (1940) Congenital atresia of the esophagus. Arch. Surg., 41, 1060–83.CrossRefGoogle Scholar
  28. Leck, I., Record, R. E., McKeown, T. et al. (1968) The incidence of malformations in Birmingham, England, 1950–1959. Teratology, 1, 263–80.PubMedCrossRefGoogle Scholar
  29. McIntosh, D. and Wright, J. E. (1986) Tracheo-oesophageal fistula in siblings. Pediatr. Surg. Int., 1, 246–8.CrossRefGoogle Scholar
  30. Myers, N. A. (1974) Oesophageal atresia: the epitome of modern surgery. Ann. R. Coll. Surg., 54, 277–87.Google Scholar
  31. Myers, N. A. (1989) Oesophageal Atresia and Tracheo-oesophageal Fistula: Changing Trends in Management, MD Thesis, University of Melbourne.Google Scholar
  32. Okhuma, R. (1978) Congenital esophageal atresia with tracheo-esophageal fistula in identical twins. J. Pediatr. Surg., 13, 361–2.CrossRefGoogle Scholar
  33. Ozimek, C. D., Grimson, R. C. and Aylsworth, A. S. (1982) An epidemiological study of tracheo-esophageal fistula and esophageal atresia in North Carolina. Teratology, 25, 53–9.PubMedCrossRefGoogle Scholar
  34. Pfeiffer, R. A. (1986) Survey of genetic and epidemiological aspects in esophageal atresia. Proceedings of Symposium on Oesophageal Atresia, World Congress of International Society for Disease of the Esophagus (Munich).Google Scholar
  35. Pilcher, R. S. (1951) Cited by McIntosh and Wright (1986).Google Scholar
  36. Romsdahl, M. M., Hunter, J. A. and Grove, W. J. (1966) Tracheo-oesophageal fistula and esophageal atresia: surgical management and results at a university hospital. J. Thorac. Cardiovasc. Surg., 52, 571–8.PubMedGoogle Scholar
  37. Schimke, R. N., Leape, L. L. and Holder, T. M. (1972) Familial occurrence of esophageal atresia: a preliminary report. Birth Defects: Original Article Series, Vol. VIII, no. 2, pp. 22–23.Google Scholar
  38. Sloan, H. and Haight, C. (1956) Congenital atresia of the esophagus in brothers. J. Thorac. Surg., 32, 209–15.PubMedGoogle Scholar
  39. Stevenson, R. E. (1972) Extra vertebrae associated with esophageal atresias and tracheo-esophageal fistulas. J. Pediatr., 81, 1123–9.PubMedCrossRefGoogle Scholar
  40. Strodel, W. E., Coran, A. E., Kirsh, M. M. et al. (1979) Esophageal atresia: a 41-year experience. Arch. Surg., 114, 523–7.PubMedCrossRefGoogle Scholar
  41. Warkany, J., Roth, C. B. and Wilson, J. G. (1948) Multiple congenital malformations. A consideration of etiologic factors. Pediatrics, 1, 462–71.PubMedGoogle Scholar
  42. Warren, J., Evans, K. and Carter, C. O. (1979) Offspring of patients with tracheo-oesophageal fistula. J. Med. Genet., 16, 338–40.PubMedCrossRefGoogle Scholar
  43. Wayson, E. E., Garnjobst, W., Chandler, J. J. et al. (1965) Esophageal atresia with tracheo-esophageal fistula: lessons of a quarter century’s experience. Am. J. Surg., 110, 162–7.PubMedCrossRefGoogle Scholar
  44. Woolley, M. D., Chinnock, R. F. and Paul, R. H. (1961) Premature twins with esophageal atresia and tracheo-esophageal fistula. Acta Paediatr., 50, 423–30.PubMedCrossRefGoogle Scholar

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© Springer Science+Business Media Dordrecht 1991

Authors and Affiliations

  • A. Bankier
  • J. Brady
  • N. A. Myers

There are no affiliations available

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