ESOPHAGEAL ATRESIA AND GENETIC DISORDERS – A PEDIATRIC SURGEON’S OPINION
Yu. A. Kozlov , V. A. Novozhilov , A. A. Rasputin
Russian Journal of Pediatric Surgery, Anesthesia and Intensive Care ›› 2017, Vol. 7 ›› Issue (1) : 70 -81.
ESOPHAGEAL ATRESIA AND GENETIC DISORDERS – A PEDIATRIC SURGEON’S OPINION
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.
esophageal atresia / combined abnormalities / genetic disorders
| [1] |
1. Gross R. E. Surgery of Infancy and Childhood. Philadelphia: WB Saunders; 1953:76. |
| [2] |
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] |
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] |
4. Puri P. Newborn Surgery. 1st ed. Butterworth-Heinemann, Reed Educational and Professional Publishing Ltd. 1996. |
| [5] |
5. Spitz L. Esophageal atresia. Lessons I have learned in a 40 year experience. Journal of Pediatric Surgery 2006;41:1635– 1640. |
| [6] |
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] |
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] |
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] |
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] |
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] |
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] |
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] |
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] |
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] |
15. Loane M., Dolk H., Morris J. K. Maternal age-specific risk of non- chromosomal anomalies. Bjog 2009, 116:1111–1119. |
| [16] |
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] |
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] |
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] |
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] |
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] |
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] |
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] |
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] |
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] |
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] |
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] |
27. Auerbach A. Fanconi anemia and its diagnosis. Mutat Res 2009, 668:4–10. |
| [28] |
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] |
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] |
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] |
31. Puusepp H., Zilina O., Teek R. et al.: 5.9 Mb microdeletion in chromosome band 17q22 q23.2 associated with tracheoesophageal fistula and conductive hearing loss. Eur J Med Genet 2009, 52:71–74. |
| [32] |
32. Digilio M. C., Marino B., Bagolan P. et al. Microdeletion 22q11 and oesophageal atresia. J Med Genet 1999, 36:137–139. |
Kozlov Y.A., Novozhilov V.A., Rasputin A.A.
/
| 〈 |
|
〉 |