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Original article
Oesophageal atresia, VACTERL association: Fanconi’s anaemia related spectrum of anomalies
  1. Y Perela,
  2. O Butenandtb,
  3. A Carrerea,
  4. R Saurac,
  5. M Fayona,
  6. T Lamireaua,
  7. P Vergnesd
  1. aDepartment of Paediatrics, Unit of Haematology and Oncology, Intensive Care Unit, Emergency Unit, Children’s Hospital, Groupe Hospitalier Pellegrin, Bordeaux, France, bUnit of Paediatric Auxology, Dr Von Haunersches Kinderhospital, Munich, Germany, cDepartment of Genetics, Groupe Hospitalier Pellegrin, Bordeaux, France, dDepartment of Pediatric Surgery, Children’s Hospital, Groupe Hospitalier Pellegrin, Bordeaux, France
  1. Dr Y Perel, Haematology and Oncology Unit, Children’s Hospital, Groupe Hospitalier Pellegrin, Place Amélie-Raba-Léon, 33076 Bordeaux Cedex, France.

Abstract

Oesophageal atresia usually occurs without any genetic background. Three cases associated with Fanconi’s anaemia are reported. One neonate had growth retardation and numerous malformations including oesophageal atresia and four other components of the VACTERL association. In the two others, oesophageal atresia was isolated. In patients with such malformations an early diagnosis of Fanconi’s anaemia may have important genetic and therapeutic implications.

  • Fanconi’s anaemia
  • oesophageal atresia
  • VACTERL
  • chromosome breakage

https://doi.org/10.1136/adc.78.4.375

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