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Choanal Atresia, Esophageal Atresia, Facial Anomalies, and Dysautonomia

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Esophageal and Gastric Disorders in Infancy and Childhood

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Abstract

This is a review of our main contributions to the literature regarding the physiological and clinical manifestations that infants with choanal atresia share with those with esophageal atresia. The common clinical picture is characterized by inspiratory and expiratory dyspnea, oropharyngeal dysphagia, gastroesophageal reflux and/or vomiting, bradycardia, sialorrhea, hyperhidrosis, hyperthermia, apparent life-threatening event, and sudden death. The common pathogenetic mechanism appears to be a maturational dysautonomia affecting multiple target sites of vagus nerve. A possible explanation of this association is a maldevelopment of the cephalic neural crest cells, which play an important role in the embryogenesis of face, esophagus, and autonomic nervous system. Support to this concept comes from the presence in infants with choanal atresia or esophageal atresia of similar minor facial anomalies, which are considered markers of a cephalic neural crest maldevelopment.

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Acknowledgments

We wish to thank Prof A Schiavetti and Dr S Frediani for their help and comments in the preparation of this chapter.

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Authors and Affiliations

  1. Pediatric Surgery Unit, University of Rome “La Sapienza”, Azienda Policlinico Umberto I, Viale Regina Elena 324, Rome, Italy

    Francesco Cozzi MD & Denis A. Cozzi MD

Authors
  1. Francesco Cozzi MD
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  2. Denis A. Cozzi MD
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Correspondence to Francesco Cozzi MD .

Editor information

Editors and Affiliations

  1. Medical University of Graz, Graz, Austria

    Holger Till

  2. Sheffield Children’s Hospital, Paediatric Gastroenterology Centre, Sheffield, United Kingdom

    Mike Thomson

  3. Division of Cardiothoracic Surgery, Department of Surgery, University of Minnesota Medical School, Minneapolis, Minnesota, USA

    John E. Foker

  4. Department Surgery, University of Missouri, Kansas City Children’s Mercy Hospital, Kansas City, Missouri, USA

    George W. Holcomb III

  5. University of Arizona, Tucson, Arizona, USA

    Khalid M. Khan

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Cozzi, F., Cozzi, D.A. (2017). Choanal Atresia, Esophageal Atresia, Facial Anomalies, and Dysautonomia. In: Till, H., Thomson, M., Foker, J., Holcomb III, G., Khan, K. (eds) Esophageal and Gastric Disorders in Infancy and Childhood. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-11202-7_10

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  • DOI: https://doi.org/10.1007/978-3-642-11202-7_10

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