esophageal atresia

Summary

Summary: Congenital abnormality characterized by the lack of full development of the ESOPHAGUS that commonly occurs with TRACHEOESOPHAGEAL FISTULA. Symptoms include excessive SALIVATION; GAGGING; CYANOSIS; and DYSPNEA.

Top Publications

  1. Ibrahim A, Al Malki T, Hamza A, Bahnassy A. Congenital esophageal stenosis associated with esophageal atresia: new concepts. Pediatr Surg Int. 2007;23:533-7 pubmed
    ..from the lower esophageal pouch (LEP) during primary repair in detecting cases of CES associated with esophageal atresia (EA) with or without tracheoesophageal fistula (TEF)...
  2. van der Zee D, Vieirra Travassos D, de Jong J, Tytgat S. A novel technique for risk calculation of anastomotic leakage after thoracoscopic repair for esophageal atresia with distal fistula. World J Surg. 2008;32:1396-9 pubmed publisher
    This study was designed to determine the risk of anastomotic leakage after thoracoscopic repair for esophageal atresia by digitally measuring the length of the proximal esophagus and distance of carina to proximal esophagus...
  3. Ron O, De Coppi P, Pierro A. The surgical approach to esophageal atresia repair and the management of long-gap atresia: results of a survey. Semin Pediatr Surg. 2009;18:44-9 pubmed publisher
    The optimal approach for esophageal atresia (OA) repair and technique used for long-gap OA repair are controversial. There are few data comparing the outcomes of the different approaches and techniques...
  4. Hishiki T, Kouchi K, Saito T, Terui K, Sato Y, Mitsunaga T, et al. Successful treatment of severe refractory anastomotic stricture in an infant after esophageal atresia repair by endoscopic balloon dilation combined with systemic administration of dexamethasone. Pediatr Surg Int. 2009;25:531-3 pubmed publisher
    A boy with a history of esophageal atresia repair received an esophagoesophagostomy at 14 months for a severe refractory anastomotic stricture, which had already required repeated balloon dilation with intralesional dexamethasone ..
  5. Que J, Okubo T, Goldenring J, Nam K, Kurotani R, Morrisey E, et al. Multiple dose-dependent roles for Sox2 in the patterning and differentiation of anterior foregut endoderm. Development. 2007;134:2521-31 pubmed
    ..for SOX2 is associated with anopthalmia-esophageal-genital syndrome (OMIM 600992), a condition including esophageal atresia (EA) and tracheoesophageal fistula (TEF), in which the trachea and esophagus fail to separate...
  6. Tambo F, Nonga B, Andze O, Chiabi A, Minkande J, Ngowe M, et al. [Difficulties in the management of esophageal atresia in developing countries]. Mali Med. 2010;25:36-8 pubmed
    ..Authors report 10 cases treated in 5 years in two hospitals of Yaounde in Cameroon. This study high line: Difficulties of oesophageal atresia management in less medicalised countries. Possible solutions in this context. ..
  7. Al Shanafey S, Harvey J. Long gap esophageal atresia: an Australian experience. J Pediatr Surg. 2008;43:597-601 pubmed publisher
    The diagnosis of long gap esophageal atresia (LGEA) may preclude immediate primary anastomosis. We reviewed our experience with this entity for a period of 10 years...
  8. Sistonen S, Koivusalo A, Nieminen U, Lindahl H, Lohi J, Kero M, et al. Esophageal morbidity and function in adults with repaired esophageal atresia with tracheoesophageal fistula: a population-based long-term follow-up. Ann Surg. 2010;251:1167-73 pubmed publisher
    ..symptoms, endoscopic findings, immunohistochemistry, and esophageal motility in adults with repaired esophageal atresia (EA). There exist no previous population-based long-term follow-up studies on EA...
  9. Genevieve D, De Pontual L, Amiel J, Sarnacki S, Lyonnet S. An overview of isolated and syndromic oesophageal atresia. Clin Genet. 2007;71:392-9 pubmed

More Information

Publications62

  1. Guo W, Li Y, Jiao A, Peng Y, Hou D, Chen Y. Tracheoesophageal fistula after primary repair of type C esophageal atresia in the neonatal period: recurrent or missed second congenital fistula. J Pediatr Surg. 2010;45:2351-5 pubmed publisher
    ..study is to investigate whether a tracheoesophageal fistula (TEF) found after the primary repair of type C esophageal atresia (EA) is a recannulation of the original fistula, a missed proximal fistula, or other rare foregut ..
  2. Gischler S, van der Cammen van Zijp M, Mazer P, Madern G, Bax N, de Jongste J, et al. A prospective comparative evaluation of persistent respiratory morbidity in esophageal atresia and congenital diaphragmatic hernia survivors. J Pediatr Surg. 2009;44:1683-90 pubmed publisher
    The aim of the study was to compare long-term respiratory morbidity in children after repair of esophageal atresia (EA) or congenital diaphragmatic hernia (CDH)...
  3. St Peter S, Calkins C, Holcomb G. The use of biosynthetic mesh to separate the anastomoses during the thoracoscopic repair of esophageal atresia and tracheoesophageal fistula. J Laparoendosc Adv Surg Tech A. 2007;17:380-2 pubmed
    Recurrent tracheoesophageal fistula following the repair of esophageal atresia and tracheoesophageal fistula (EA/TEF) is a difficult complication to manage, which makes prevention the dominant concern of surgeons performing the primary ..
  4. Burjonrappa S, Youssef S, St Vil D. What is the incidence of Barrett's and gastric metaplasia in esophageal atresia/tracheoesophageal fistula (EA/TEF) patients?. Eur J Pediatr Surg. 2011;21:25-9 pubmed publisher
    ..The interval between esophageal atresia correction and the development of erosive esophagitis, gastric metaplasia and Barrett's esophagus was ..
  5. Wong Gibbons D, Romitti P, Sun L, Moore C, Reefhuis J, Bell E, et al. Maternal periconceptional exposure to cigarette smoking and alcohol and esophageal atresia +/- tracheo-esophageal fistula. Birth Defects Res A Clin Mol Teratol. 2008;82:776-84 pubmed publisher
    b>Esophageal atresia (EA) is a moderately frequent birth defect that often occurs with tracheo-esophageal fistula (TEF). Etiologic studies for EA+/-TEF have produced inconsistent results...
  6. Juza R, Arca M, Densmore J, Aiken J, Lal D. Laparoscopic-assisted transhiatal gastric transposition for long gap esophageal atresia in an infant. J Pediatr Surg. 2010;45:1534-7 pubmed publisher
    Previous reports describing laparoscopic-assisted transhiatal gastric transposition for long gap esophageal atresia (LGEA) have focused on older infants (median age of 11 months)...
  7. Lacher M, Froehlich S, von Schweinitz D, Dietz H. Early and long term outcome in children with esophageal atresia treated over the last 22 years. Klin Padiatr. 2010;222:296-301 pubmed publisher
    The survival of infants born with esophageal atresia (EA) is > 90% at present. The purpose of this study was to evaluate early complications and long term outcome in children with EA treated at our institution...
  8. Rintala R, Sistonen S, Pakarinen M. Outcome of esophageal atresia beyond childhood. Semin Pediatr Surg. 2009;18:50-6 pubmed publisher
    Survivors of esophageal atresia are reaching their adulthood in large numbers for the first time enabling assessment of true long-term outcome among this group of patients...
  9. Till H, Muensterer O, Rolle U, Foker J. Staged esophageal lengthening with internal and subsequent external traction sutures leads to primary repair of an ultralong gap esophageal atresia with upper pouch tracheoesophagel fistula. J Pediatr Surg. 2008;43:E33-5 pubmed publisher
    Primary repair of very long gap esophageal atresia (EA) with almost complete absence of thoracic esophagus has usually been thought impossible. Thus, esophageal replacement with colon or gastric interposition seemed inevitable...
  10. Zhang Z, Huang Y, Su P, Wang D, Wang L. Experience in treating congenital esophageal atresia in China. J Pediatr Surg. 2010;45:2009-14 pubmed publisher
    The aim of the study was to evaluate our recent experience in treating esophageal atresia (EA) and the outcomes observed at a single center for pediatric surgery. The records of infants with EA from 2006 to 2009 were reviewed...
  11. Bax N, van der Zee D. Jejunal pedicle grafts for reconstruction of the esophagus in children. J Pediatr Surg. 2007;42:363-9 pubmed
    ..Nineteen had esophageal atresia (18 had no distal fistula; all but 1 had a jejunal graft as a primary procedure), 3 had an extensive caustic ..
  12. van der Zee D, Bax K. Thoracoscopic treatment of esophageal atresia with distal fistula and of tracheomalacia. Semin Pediatr Surg. 2007;16:224-30 pubmed
    Single center experience with thoracoscopic repair of esophageal atresia with distal fistula and of tracheomalacia. Between May 2000 and December 2006, 51 neonates with an esophageal atresia were presented for thoracoscopic repair...
  13. Taylor A, Breen K, Auldist A, Catto Smith A, Clarnette T, Crameri J, et al. Gastroesophageal reflux and related pathology in adults who were born with esophageal atresia: a long-term follow-up study. Clin Gastroenterol Hepatol. 2007;5:702-6 pubmed
    b>Esophageal atresia (EA) is the most common congenital anomaly of the esophagus. There are few long-term follow-up data on adults who had surgery for EA as infants...
  14. Gordon C, Petit F, Oufadem M, Decaestecker C, Jourdain A, Andrieux J, et al. EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia. J Med Genet. 2012;49:737-46 pubmed publisher
  15. Li Y, Litingtung Y, Ten Dijke P, Chiang C. Aberrant Bmp signaling and notochord delamination in the pathogenesis of esophageal atresia. Dev Dyn. 2007;236:746-54 pubmed
    Human foregut malformation known as esophageal atresia with tracheoesophageal fistula (EA/TEF) occurs in 1 in 4,000 live births with unknown etiology...
  16. Oddsberg J, Jia C, Nilsson E, Ye W, Lagergren J. Influence of maternal parity, age, and ethnicity on risk of esophageal atresia in the infant in a population-based study. J Pediatr Surg. 2008;43:1660-5 pubmed publisher
    The etiology of esophageal atresia (EA) is virtually unknown. We hypothesized that the maternal factors low parity, high age, and white ethnicity are involved...
  17. Lopes M, Botelho M. Midterm follow-up of esophageal anastomosis for esophageal atresia repair: long-gap versus non-long-gap. Dis Esophagus. 2007;20:428-35 pubmed
    Current approaches to the repair of long-gap esophageal atresia (EA) favor esophageal anastomosis...
  18. Shaw Smith C. Genetic factors in esophageal atresia, tracheo-esophageal fistula and the VACTERL association: roles for FOXF1 and the 16q24.1 FOX transcription factor gene cluster, and review of the literature. Eur J Med Genet. 2010;53:6-13 pubmed publisher
    b>Esophageal atresia with/without tracheo-esophageal fistula is a relatively common malformation, occurring in around 1 in 3500 births...
  19. Sfeir R, Bonnard A, Khen Dunlop N, Auber F, Gelas T, Michaud L, et al. Esophageal atresia: data from a national cohort. J Pediatr Surg. 2013;48:1664-9 pubmed publisher
    A prospective national register was established in 2008 to record all new cases of live-birth newborns with esophageal atresia (EA). This epidemiological survey was recommended as part of a national rare diseases plan...
  20. Felix J, 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 pubmed
    ..This paper reviews the chromosomal abnormalities reported in cases of OA/TOF and serves as a starting point to identify chromosomal regions harbouring genes involved in the aetiology of OA/TOF. ..
  21. Spitz L. Oesophageal atresia. Orphanet J Rare Dis. 2007;2:24 pubmed
    ..Infants weighing over 1500 g and having no major cardiac problem should have a near 100% survival, while the presence of one of the risk factors reduces survival to 80% and further to 30-50% in the presence of both risk factors. ..
  22. Moreau B, Levesque D, Faure C. Association of gastric heterotopic pancreas and esophageal atresia in children. J Pediatr Gastroenterol Nutr. 2010;50:394-6 pubmed publisher
    b>Esophageal atresia with or without tracheo-esophageal fistula is a frequent malformation that occurs in about 1 of 3000 live births. It can be associated with other congenital malformations...
  23. MacKinlay G. Esophageal atresia surgery in the 21st century. Semin Pediatr Surg. 2009;18:20-2 pubmed publisher
    ..Thoracoscopic repair of oesophageal atresia is feasible and the long term outcome appears favorable. ..
  24. Yoo H, Kim W, Cheon J, Yoo S, Park K, Jung S, et al. Congenital esophageal stenosis associated with esophageal atresia/tracheoesophageal fistula: clinical and radiologic features. Pediatr Radiol. 2010;40:1353-9 pubmed publisher
    Congenital esophageal stenosis (CES) can be associated with esophageal atresia/tracheoesophageal fistula (EA/TEF)...
  25. Mahalik S, Sodhi K, Narasimhan K, Rao K. Role of preoperative 3D CT reconstruction for evaluation of patients with esophageal atresia and tracheoesophageal fistula. Pediatr Surg Int. 2012;28:961-6 pubmed
    ..tomography (CT) of chest with three-dimensional (3D) reconstructions was evaluated in neonates with esophageal atresia and tracheoesophageal fistula...
  26. Delacourt C, Hadchouel A, Toelen J, Rayyan M, de Blic J, Deprest J. Long term respiratory outcomes of congenital diaphragmatic hernia, esophageal atresia, and cardiovascular anomalies. Semin Fetal Neonatal Med. 2012;17:105-11 pubmed publisher
    ..This certainly is the case for congenital diaphragmatic hernia, esophageal atresia and cardiac and aortic arch abnormalities...
  27. Aslanabadi S, Jamshidi M, Tubbs R, Shoja M. The role of prophylactic chest drainage in the operative management of esophageal atresia with tracheoesophageal fistula. Pediatr Surg Int. 2009;25:365-8 pubmed publisher
    ..are among the most common and potentially life-threatening complications following the surgical repair of esophageal atresia. Controversies exist regarding the efficacy of prophylactic extrapleural chest tube (EPCT) drainage in ..
  28. Szavay P, Zundel S, Blumenstock G, Kirschner H, Luithle T, Girisch M, et al. Perioperative outcome of patients with esophageal atresia and tracheo-esophageal fistula undergoing open versus thoracoscopic surgery. J Laparoendosc Adv Surg Tech A. 2011;21:439-43 pubmed publisher
    Thoracoscopic approach for repair of esophageal atresia (EA) and tracheo-esophageal fistula (TEF) has become a standard procedure in many pediatric surgical centers...
  29. Stoll C, Alembik Y, Dott B, Roth M. Associated malformations in patients with esophageal atresia. Eur J Med Genet. 2009;52:287-90 pubmed publisher
    b>Esophageal atresia is a common type of congenital malformation. The etiology of esophageal atresia is unclear and its pathogenesis is controversial...
  30. Veenma D, Brosens E, de Jong E, van de Ven C, Meeussen C, Cohen Overbeek T, et al. Copy number detection in discordant monozygotic twins of Congenital Diaphragmatic Hernia (CDH) and Esophageal Atresia (EA) cohorts. Eur J Hum Genet. 2012;20:298-304 pubmed publisher
    ..In this study, the prevalence of discrepant CNVs was analyzed in discordant MZ twins of the Esophageal Atresia (EA) and Congenital Diaphragmatic Hernia (CDH) cohort in the Netherlands...
  31. Sistonen S, Malmberg P, Malmstrom K, Haahtela T, Sarna S, Rintala R, et al. Repaired oesophageal atresia: respiratory morbidity and pulmonary function in adults. Eur Respir J. 2010;36:1106-12 pubmed publisher
    ..Thoracotomy-induced rib fusions and gastro-oesophageal reflux-associated oesophageal epithelial metaplasia were the strongest risk factors for restrictive ventilatory defect. ..
  32. Upadhyaya V, Gangopadhyaya A, Gupta D, Sharma S, Kumar V, Pandey A, et al. Prognosis of congenital tracheoesophageal fistula with esophageal atresia on the basis of gap length. Pediatr Surg Int. 2007;23:767-71 pubmed
    Congenital tracheoesophageal fistula (TEF) with esophageal atresia (EA) is not an uncommon disease of newborns...
  33. Serhal L, Gottrand F, Sfeir R, Guimber D, Devos P, Bonnevalle M, et al. Anastomotic stricture after surgical repair of esophageal atresia: frequency, risk factors, and efficacy of esophageal bougie dilatations. J Pediatr Surg. 2010;45:1459-62 pubmed publisher
    ..of esophageal bougie dilatations for symptomatic anastomotic stricture in a population of children with esophageal atresia. The medical records of 62 children operated on for esophageal atresia type III (Ladd and Gross) over a 5-..
  34. de Jong E, Felix J, de Klein A, Tibboel D. Etiology of esophageal atresia and tracheoesophageal fistula: "mind the gap". Curr Gastroenterol Rep. 2010;12:215-22 pubmed publisher
    b>Esophageal atresia and tracheoesophageal fistula (EA/TEF) are major congenital malformations affecting 1:3500 live births. Current research efforts are focused on understanding the etiology of these defects...
  35. Levin D, Diamond I, Langer J. Complete vs partial fundoplication in children with esophageal atresia. J Pediatr Surg. 2011;46:854-8 pubmed publisher
    ..purpose of the study was to compare outcomes after partial vs complete fundoplication in patients with prior esophageal atresia repair...
  36. Boleken M, Demirbilek S, Kirimiloglu H, Kanmaz T, Yucesan S, Celbis O, et al. Reduced neuronal innervation in the distal end of the proximal esophageal atretic segment in cases of esophageal atresia with distal tracheoesophageal fistula. World J Surg. 2007;31:1512-7 pubmed
    Esophageal dysmotility is a common occurence after surgical repair of proximal esophageal atresia (EA) and distal tracheoesophageal fistula (TEF). The etiology of this motility disorder, however, remains controversial...
  37. Patkowsk D, Rysiakiewicz K, Jaworski W, Zielinska M, Siejka G, Konsur K, et al. Thoracoscopic repair of tracheoesophageal fistula and esophageal atresia. J Laparoendosc Adv Surg Tech A. 2009;19 Suppl 1:S19-22 pubmed publisher
    To evaluate the safety and efficacy of the thoracoscopic repair of esophageal atresia and tracheoesophageal fistula (EA/TEF)...
  38. Alshehri A, Lo A, Baird R. An analysis of early nonmortality outcome prediction in esophageal atresia. J Pediatr Surg. 2012;47:881-4 pubmed publisher
    Advances in care for neonates with esophageal atresia (EA) has improved overall survival rates. Disease-specific prognostic scores for EA assess mortality risk without assessing patient morbidity...
  39. Wieczorek D, Shaw Smith C, Kohlhase J, Schmitt W, Buiting K, Coffey A, et al. Esophageal atresia, hypoplasia of zygomatic complex, microcephaly, cup-shaped ears, congenital heart defect, and mental retardation--new MCA/MR syndrome in two affected sibs and a mildly affected mother?. Am J Med Genet A. 2007;143A:1135-42 pubmed
    The previously undescribed combination of esophageal atresia, hypoplasia of the zygomatic complex, microcephaly, cup-shaped ears, congenital heart defect, and mental retardation was diagnosed in two siblings of different sexes, with the ..
  40. Demircan M, Aksoy T, Ceran C, Kafkasli A. Tracheal agenesis and esophageal atresia with proximal and distal bronchoesophageal fistulas. J Pediatr Surg. 2008;43:e1-3 pubmed publisher
    ..b>Esophageal atresia (EA) encompasses a group of congenital anomalies comprising an interruption of the continuity of the ..
  41. Upadhyaya V, Gopal S, Gangopadhyaya A, Gupta D, Sharma S, Upadyaya A, et al. Role of fibrin glue as a sealant to esophageal anastomosis in cases of congenital esophageal atresia with tracheoesophageal fistula. World J Surg. 2007;31:2412-5 pubmed
    The aim of this study was to characterize a successful approach for the management of infants with long-gap esophageal atresia (EA) with tracheoesophageal fistula (TEF)...
  42. Ceelie I, van Dijk M, Bax N, de Wildt S, Tibboel D. Does minimal access major surgery in the newborn hurt less? An evaluation of cumulative opioid doses. Eur J Pain. 2011;15:615-20 pubmed publisher
    ..consumption between neonates undergoing thoracoscopic minimal access surgery or conventional surgery of esophageal atresia (EA) and congenital diaphragmatic hernia (CDH)...
  43. Oddsberg J, Jia C, Nilsson E, Ye W, Lagergren J. Maternal tobacco smoking, obesity, and low socioeconomic status during early pregnancy in the etiology of esophageal atresia. J Pediatr Surg. 2008;43:1791-5 pubmed publisher
    The etiology of the congenital malformation esophageal atresia (EA) is essentially unknown...
  44. Shimotakahara A, Sueyoshi R, Lane G, Okazaki T, Nishimura K, Inada E, et al. The benefit of stay sutures during thoracoscopic esophagoesophagostomy in patients with esophageal atresia: a technical report. Pediatr Surg Int. 2010;26:443-6 pubmed publisher
    We report on technical modifications we developed for thoracoscopic esophagoesophagostomy in patients with esophageal atresia. They are: (1) placing stay sutures along the edges of the atretic esophagi and exteriorizing them through the ..
  45. Felix J, van Dooren M, Klaassens M, Hop W, Torfs C, Tibboel D. 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 pubmed publisher
    b>Esophageal atresia with or without tracheoesophageal fistula (EA/TEF) and congenital diaphragmatic hernia (CDH) are severe congenital anomalies. Their etiologies are mostly unknown and are thought to be multifactorial...
  46. de Jong E, de Haan M, Gischler S, Hop W, Cohen Overbeek T, Bax N, et al. Pre- and postnatal diagnosis and outcome of fetuses and neonates with esophageal atresia and tracheoesophageal fistula. Prenat Diagn. 2010;30:274-9 pubmed publisher
    Clinical symptoms and ultrasound signs during pregnancy could suggest the presence of esophageal atresia (EA). However, most often EA is diagnosed postnatally...
  47. Paya K, Schlaff N, Pollak A. Isolated ultra-long gap esophageal atresia - successful use of the foker technique. Eur J Pediatr Surg. 2007;17:278-81 pubmed
    ..The boy was under mechanical ventilation for a total of 15 days. The Foker method seems to be quite feasible and quickly results in the expected primary anastomosis. The result in this single case is excellent. ..
  48. Malmström K, Lohi J, Lindahl H, Pelkonen A, Kajosaari M, Sarna S, et al. Longitudinal follow-up of bronchial inflammation, respiratory symptoms, and pulmonary function in adolescents after repair of esophageal atresia with tracheoesophageal fistula. J Pediatr. 2008;153:396-401 pubmed publisher
    ..symptoms, pulmonary function tests (PFT) and bronchial responsiveness (BR) in adolescents after repaired esophageal atresia with tracheoesophageal fistula and correlate these with endobronchial biopsy findings...
  49. Li K, Zheng S, Xiao X, Wang Q, Zhou Y, Chen L. The structural characteristics and expression of neuropeptides in the esophagus of patients with congenital esophageal atresia and tracheoesophageal fistula. J Pediatr Surg. 2007;42:1433-8 pubmed
    ..characteristics and the expression of a group of neuropeptides in the esophagus of patients with congenital esophageal atresia and tracheoesophageal fistula (EA-TEF), as well to elucidate the roles of these neuropeptides in the ..
  50. de Jong E, Felix J, Deurloo J, van Dooren M, Aronson D, Torfs C, et al. Non-VACTERL-type anomalies are frequent in patients with esophageal atresia/tracheo-esophageal fistula and full or partial VACTERL association. Birth Defects Res A Clin Mol Teratol. 2008;82:92-7 pubmed publisher
    ..of Vertebral anomalies, Anal atresia, Cardiovascular malformations, Tracheo-esophageal fistula (TEF) and/or Esophageal atresia (EA), Renal anomalies, and/or Limb-anomalies...
  51. Keckler S, St Peter S, Valusek P, Tsao K, Snyder C, Holcomb G, et al. VACTERL anomalies in patients with esophageal atresia: an updated delineation of the spectrum and review of the literature. Pediatr Surg Int. 2007;23:309-13 pubmed
    ..Therefore, we reviewed our most recent 20-year experience of patients born with esophageal atresia to comprehensively delineate and accurately describe the type and incidence of associated lesions...
  52. Pinheiro P, Simoes e Silva A, Pereira R. Current knowledge on esophageal atresia. World J Gastroenterol. 2012;18:3662-72 pubmed publisher
    b>Esophageal atresia (EA) with or without tracheoesophageal fistula (TEF) is the most common congenital anomaly of the esophagus...
  53. Voigt C, Megarbane A, Neveling K, Czeschik J, Albrecht B, Callewaert B, et al. Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations. Orphanet J Rare Dis. 2013;8:110 pubmed publisher
    ..Recently, gross deletions and mutations in EFTUD2 were determined to cause syndromic esophageal atresia (EA), as well. We set forth to find further conditions caused by mutations in the EFTUD2 gene (OMIM *603892)...