An overview of isolated and syndromic oesophageal atresia

  title={An overview of isolated and syndromic oesophageal atresia},
  author={David Genevi{\`e}ve and Loïc De Pontual and Jeanne Amiel and Sabine Sarnacki and Stanislas Lyonnet},
  journal={Clinical Genetics},
Oesophageal atresia (OA) and/or tracheo‐oesophageal fistula (TOF) are frequent malformations observed in approximately one in 3500 births. OA/TOF can be divided clinically into isolated OA (IOA) and syndromic OA (SOA) when associated with other features, the most frequent being cardiac, limb and vertebral malformations or anal atresia. SOA is observed in 50% of patients and can be subdivided into several causative groups comprising environmental agents, chromosomal disorders, malformative… 
A new chromosomal arrangement due to paternal balanced translocation for syndromic oesophageal atresia: case report
The aim of this case is to shed light to the genetic aetiology of this life-threatening condition by showing a novel chromosomal abnormality.
Copy number variations in 375 patients with oesophageal atresia and/or tracheoesophageal fistula
This study suggests that CNVs contribute to OA/TOF development, and detects 167 rare CNVs containing genes that might be of interest, as they can act as a modifier in a multiple hit model, or as the second hit in a recessive condition.
Whole genome sequencing of familial isolated oesophagus atresia uncover shared structural variants
This study highlights rare SVs among candidate gene variants in individuals with OA and provides a gene framework for further investigations of genetic factors behind this malformation.
Genetics of gastrointestinal atresias.
  • J. Celli
  • Medicine
    European journal of medical genetics
  • 2014
The patient underwent primary repair of OA/TEF malformations, which was later complicated by pneumonia and a recurrent TEF, and has the same interstitial microduplication but with a normal phenotype.
Esophageal Atresia/Tracheoesophageal Fistula
Esophageal atresia (EA) and tracheoesphageal fistula (TEF) are congenital abnormalities that occur in approximately 1 in 4,000 births and are related to defect in recanalization of the esophagus in the 8th week of gestation.
Esophageal Atresia with or without Tracheoesophageal Fistula (EA/TEF): Association of Different EA/TEF Subtypes with Specific Co‐occurring Congenital Anomalies and Implications for Diagnostic Workup
  • Thomas Bogs, N. Zwink, H. Reutter
  • Medicine
    European journal of pediatric surgery : official journal of Austrian Association of Pediatric Surgery ... [et al] = Zeitschrift fur Kinderchirurgie
  • 2018
The association of the different EA/TEF subtypes with co‐occurring congenital anomalies in EA/ TEF patients and their implications for postnatal diagnostic workup are investigated and warrant thorough clinical workup for gastrointestinal anomalies especially in patients with Vogt 3b.


Oesophageal atresia, related malformations, and medical problems: a family study.
The results confirm that the associated malformations and related medical problems occur significantly more frequently in the relatives of individuals with OA/TOF.
Microdeletion 22q11 and oesophageal atresia
Clinical variability of del(22q11.2) syndrome is further corroborated with inclusion of OA in the list of the findings associated with the deletion, and this chromosomal anomaly should be included among causative factors of malformation complexes with OA.
Oesophageal atresia, tracheo-oesophageal fistula, and the VACTERL association: review of genetics and epidemiology
Current knowledge of the genetics and epidemiology of the different oesophageal atresia/tracheo-oesophageaal fistula syndromes and associations is reviewed.
Tracheoesophageal anomalies in oculoauriculovertebral (Goldenhar) spectrum
The records of all OAVS patients evaluated through the University of South Florida Regional Genetics Program between 1985 and 1993 suggest that TEF/EA in association with OAVs is underreported.
Fryns syndrome: report on 8 new cases
8 new cases of Fryns syndrome are described, 6 of which were diagnosed in a series of 112276 consecutive births (livebirths and perinatal deaths), confirming that the most frequent anomalies are diaphragmatic defects, lung hypoplasia, cleft lip and palate (often bilateral), cardiac defects, cardiac defects (septal defects and aortic arch anomalies), renal cysts, urinary tract malformations, and distal limbhypoplasia.
The epidemiology of tracheo-oesophageal fistula and oesophageal atresia in Europe. EUROCAT Working Group.
There was variation between centres in survival of affected liveborn children up to 1 year of age and there were no apparent epidemiological differences between isolated and multiply malformed cases in secular trend, sex ratio, or maternal age.
Population-based study of tracheoesophageal fistula and esophageal atresia.
The proportion of cases with additional midline defects or VATER or VACTERL type anomalies was similar for all three defects, suggesting a common developmental pathogenesis, and the need to evaluate each defect and its types separately in epidemiologic studies is emphasized.
Another observation with VATER association and a complex IV respiratory chain deficiency.
VACTERL with hydrocephalus: family with X-linked VACTERL-H.
Four affected males with hydrocephalus are described in a five generation family due to aqueductal stenosis, symmetrical radial ray abnormalities, renal anomalies, anal atresia, hypoplastic penis/abnormal testes, and cardiac abnormalities that are characteristic of the rare X-linked VACTERL-H syndrome.
Feingold syndrome: Clinical review and genetic mapping
Comparison of the pattern of anomalies that occurs in the Feingold syndrome in humans and malformations that are present in mice with mutations of genes in the sonic hedgehog signaling pathway suggest, that the elusive Feingolds gene may involve this signaling pathway as well.