An overview of isolated and syndromic oesophageal atresia

@article{Genevive2007AnOO,
  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},
  year={2007},
  volume={71}
}
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… 
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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
TLDR
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
TLDR
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.
Clinical and etiological heterogeneity in patients with tracheo-esophageal malformations and associated anomalies.
Genetics of gastrointestinal atresias.
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    European journal of medical genetics
  • 2014
ESOPHAGEAL ATRESIA WITH RECURRENT TRACHEOESOPHAGEAL FISTULAS AND MICRODUPLICATION 22q11.23.
TLDR
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
TLDR
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.
Associated malformations in patients with esophageal atresia.
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
TLDR
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.
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