ESOPHAGEAL ATRESIA AND GENETIC DISORDERS – A PEDIATRIC SURGEON’S OPINION

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Abstract

The scientific review presents the data related to the combination of atresia with genetic disorders that must be discussed before the surgery to make a correct decision on the fate of the patient with esophageal atresia. 

About the authors

Yu. A. Kozlov

Municipal Ivan and Matryona Children's Clinical Hospital, Irkutsk;
Irkutsk State Medical Academy of Post-Graduate Studies;
Irkutsk State Medical University

Author for correspondence.
Email: yuriherz@hotmail.com

Заведующий отделением хирургии новорожденных ОГАУЗ

профессор кафедры детской хирургии ГБОУ ВПО

профессор кафедры ГБОУ ВПО

г. Иркутск, ул. Советская, 57, 664009 

Russian Federation

V. A. Novozhilov

Municipal Ivan and Matryona Children's Clinical Hospital, Irkutsk;
Irkutsk State Medical Academy of Post-Graduate Studies;
Irkutsk State Medical University

Email: fake@neicon.ru

Главный врач ОГАУЗ

заведующий кафедры детской хирургии ГБОУ ВПО

профессор кафедры ГБОУ ВПО

г. Иркутск, ул. Советская, 57, 664009 

Russian Federation

A. A. Rasputin

Municipal Ivan and Matryona Children's Clinical Hospital, Irkutsk

Email: fake@neicon.ru

Врач-хирург отделения хирургии новорожденных ОГАУЗ,

г. Иркутск, ул. Советская, 57, 664009

Russian Federation

References

  1. Gross R. E. Surgery of Infancy and Childhood. Philadelphia: WB Saunders; 1953:76.
  2. Kyyronen P., Hemminki K. Gastro-intestinal atresias in Finland in 1970–79, indicating time-place clustering. J Epidemiol Community Health 1988;42:257–265.
  3. Torfs C. P., Curry C. J., Bateson T. F. Population-based study of tracheoesophageal fistula and esophageal atresia. Teratology 1995, 52:220–232.
  4. Puri P. Newborn Surgery. 1st ed. Butterworth-Heinemann, Reed Educational and Professional Publishing Ltd. 1996.
  5. Spitz L. Esophageal atresia. Lessons I have learned in a 40 year experience. Journal of Pediatric Surgery 2006;41:1635– 1640.
  6. Stoll C., Alembik Y., Dott B., Roth M. P. Associated malformations in patients with esophageal atresia. Eur J Med Genet 2009, 52:287–290.
  7. Koivusalo A., Pakarinen M., Rintala R. Modern outcomes of esophageal atresia: single centre experience over the last twenty years. J Pediatr Surg 2013;48:297–303.
  8. McMullen K. P., Karnes P. S., Moir C. R., Michels V. V. Familial recurrence of tracheoesophageal fistula and associated malforma- tions. Am J Med Genet 1996, 63:525–528.
  9. Felix J. F., Keijzer R., van Dooren M. F. et al. Genetics and developmental biology of oesophageal atresia and trachea-oesophageal fistula: lessons from mice relevant for paediatric surgeons. Pediatr Surg Int 2004, 20:731–736.
  10. Felix J. F., Tibboel D., de KleinA. Chromosomal anomalies in the aetiology of oesophageal atresia and tracheo-oesophageal fistula. Eur J Med Genet 2007, 50:163–175.
  11. Felix J. F., van Dooren M. F., Klaassens M. et al. Environmental factors in the etiology of esophageal atresia and congenital diaphragmatic hernia: results of a case-control study. Birth Defects Res A Clin Mol Teratol 2008, 82:98–105.
  12. Diez-Pardo J. A., Baoquan Q., Navarro C., Tovar J. A. A new rodent experimental model of esophageal atresia and tracheoesophageal fistula: preliminary report. J Pediatr Surg 1996, 31:498–502.
  13. De Jong E., Felix J., de Klein A., Tibboel D. Etiology of esophageal atresia and tracheoesophageal fistula: «mind the gap». Curr Gastroenterol Rep 2010;12:215–222.
  14. Genevieve D., de Pontual L., Amiel J. et al. An overview of isolated and syndromic oesophageal atresia. Clin Genet 2007, 71:392–399.
  15. Loane M., Dolk H., Morris J. K. Maternal age-specific risk of non- chromosomal anomalies. Bjog 2009, 116:1111–1119.
  16. La Placa S., Guiffre M., Gangemi A. et al. Esophageal atresia in newborns: a wide spectrum from isolated form to a full VACTERL phenotype. Italian J Ped 2013; 39:45.
  17. Van Bokhoven H., Celli J., van Reeuwijk J. et al. MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndrome. Nat Genet 2005, 37:465–467.
  18. Marcelis C. L., Hol F. A., Graham G. E. et al. Genotype-phenotype correlations in MYCN-related Feingold syndrome. Hum Mutat 2008, 29:1125–1132.
  19. Vissers L. E., van Ravenswaaij C. M., Admiraal R. et al. Mutation in a new member of the chromodomain gene family cause CHARGE syndrome. Nat Genet 2004, 36:955–957.
  20. Schnetz M. P., Bartels C. F., Shastri K. et al. Genomic distribution of CHD7 on chromatin tracks H3K4 methylation patterns. Genome Res 2009, 19:590–601.
  21. Que J., Choi M., Ziel J. W. et al. Morphogenesis of the trachea and esophagus: current players and new roles for noggin and Bmps. Differentiation 2006, 74:422–437.
  22. Williamson K. A., Hever A. M., Rainger J. et al. Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome. Hum Mol Genet 2006, 15:1413–1422.
  23. Motoyama J., Liu J., Mo R. et al. Essential function of Gli2 and Gli3 in the formation of lung, trachea and oesophagus. Nat Genet 1998, 20:54–57.
  24. Johnston J. J., Olivos-Glander I., Killoran C. et al. Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister- Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations. Am J Hum Genet 2005, 76:609–622.
  25. Robin N. H., Feldman G. J., Aronson A. L. et al. Opitz syndrome is genetically heterogeneous, with one locus on Xp22, and a second locus on 22q11.2. Nat Genet 1995, 11:459–461.
  26. De Falco F., Cainarca S., Andolfi G. et al. X-linked Opitz syndrome: novel mutations in the MID1 gene and redefinition of the clinical spectrum. Am J Med Genet A 2003, 120:222–228.
  27. Auerbach A. Fanconi anemia and its diagnosis. Mutat Res 2009, 668:4–10.
  28. Yamada T., Tachibana A., Shimizu T. et al. Novel mutations of the FANCG gene causing alternative splicing in Japanese Fanconi anemia. J Hum Genet 2000, 45:159–166.
  29. Alter B. P., Rosenberg P. S., Brody L. C. Clinical and molecular features associated with biallelic mutations in FANCD1/ BRCA2. J Med Genet 2007, 44:1–9.
  30. Holden S. T., Cox J. J., Kesterton I. et al. Fanconi anaemia complementation group B presenting as X linked VACTERL with hydrocephalus syndrome. J Med Genet 2006, 43:750–754.
  31. Digilio M. C., Marino B., Bagolan P. et al. Microdeletion 22q11 and oesophageal atresia. J Med Genet 1999, 36:137–139.

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Copyright (c) 2017 Kozlov Y.A., Novozhilov V.A., Rasputin A.A.

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