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Tracheal agenesis: approach towards this severe diagnosis. Case report and review of the literature
Tracheal agenesis (TA) is a severe congenital disorder with often an unexpected emergency presentation. There is complete or partial absence of the trachea below the larynx, with presence or absence of a tracheoesophageal fistula (TOF). A neonate with TA is described, and another 48 cases found in l...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Springer-Verlag
2011
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3284653/ https://www.ncbi.nlm.nih.gov/pubmed/21918809 http://dx.doi.org/10.1007/s00431-011-1563-x |
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author | de Groot-van der Mooren, Maurike D. Haak, Monique C. Lakeman, Phillis Cohen-Overbeek, Titia E. van der Voorn, J. Patrick Bretschneider, Jochen H. van Elburg, Ruurd M. |
author_facet | de Groot-van der Mooren, Maurike D. Haak, Monique C. Lakeman, Phillis Cohen-Overbeek, Titia E. van der Voorn, J. Patrick Bretschneider, Jochen H. van Elburg, Ruurd M. |
author_sort | de Groot-van der Mooren, Maurike D. |
collection | PubMed |
description | Tracheal agenesis (TA) is a severe congenital disorder with often an unexpected emergency presentation. There is complete or partial absence of the trachea below the larynx, with presence or absence of a tracheoesophageal fistula (TOF). A neonate with TA is described, and another 48 cases found in literature are reviewed. Due to absence of a TOF, five cases were diagnosed prenatally because of congenital high airway obstruction syndrome (CHAOS). When a TOF is present, polyhydramnion and several other congenital malformations seen on the ultrasound examination should alert clinicians of potential tracheal problems. Prenatal magnetic resonance imaging (MRI) may provide a definitive diagnosis. Postnatal diagnosis is based on recognition of specific clinical signs in the newborn with TA: respiratory distress with breathing movement without appropriate air entry, no audible cry, and failed endotracheal intubation. Despite progress in surgical interventions, mortality remains high. Prenatal diagnosis of TA is possible, but only if a TOF is absent resulting in CHAOS. Prenatal diagnosis of polyhydramnion and other congenital malformation should alert clinicians of potential tracheal problems. Prenatal MRI may provide a definitive diagnosis. |
format | Online Article Text |
id | pubmed-3284653 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2011 |
publisher | Springer-Verlag |
record_format | MEDLINE/PubMed |
spelling | pubmed-32846532012-03-08 Tracheal agenesis: approach towards this severe diagnosis. Case report and review of the literature de Groot-van der Mooren, Maurike D. Haak, Monique C. Lakeman, Phillis Cohen-Overbeek, Titia E. van der Voorn, J. Patrick Bretschneider, Jochen H. van Elburg, Ruurd M. Eur J Pediatr Review Tracheal agenesis (TA) is a severe congenital disorder with often an unexpected emergency presentation. There is complete or partial absence of the trachea below the larynx, with presence or absence of a tracheoesophageal fistula (TOF). A neonate with TA is described, and another 48 cases found in literature are reviewed. Due to absence of a TOF, five cases were diagnosed prenatally because of congenital high airway obstruction syndrome (CHAOS). When a TOF is present, polyhydramnion and several other congenital malformations seen on the ultrasound examination should alert clinicians of potential tracheal problems. Prenatal magnetic resonance imaging (MRI) may provide a definitive diagnosis. Postnatal diagnosis is based on recognition of specific clinical signs in the newborn with TA: respiratory distress with breathing movement without appropriate air entry, no audible cry, and failed endotracheal intubation. Despite progress in surgical interventions, mortality remains high. Prenatal diagnosis of TA is possible, but only if a TOF is absent resulting in CHAOS. Prenatal diagnosis of polyhydramnion and other congenital malformation should alert clinicians of potential tracheal problems. Prenatal MRI may provide a definitive diagnosis. Springer-Verlag 2011-09-15 2012 /pmc/articles/PMC3284653/ /pubmed/21918809 http://dx.doi.org/10.1007/s00431-011-1563-x Text en © The Author(s) 2011 https://creativecommons.org/licenses/by-nc/4.0/ This article is distributed under the terms of the Creative Commons Attribution Noncommercial License which permits any noncommercial use, distribution, and reproduction in any medium, provided the original author(s) and source are credited. |
spellingShingle | Review de Groot-van der Mooren, Maurike D. Haak, Monique C. Lakeman, Phillis Cohen-Overbeek, Titia E. van der Voorn, J. Patrick Bretschneider, Jochen H. van Elburg, Ruurd M. Tracheal agenesis: approach towards this severe diagnosis. Case report and review of the literature |
title | Tracheal agenesis: approach towards this severe diagnosis. Case report and review of the literature |
title_full | Tracheal agenesis: approach towards this severe diagnosis. Case report and review of the literature |
title_fullStr | Tracheal agenesis: approach towards this severe diagnosis. Case report and review of the literature |
title_full_unstemmed | Tracheal agenesis: approach towards this severe diagnosis. Case report and review of the literature |
title_short | Tracheal agenesis: approach towards this severe diagnosis. Case report and review of the literature |
title_sort | tracheal agenesis: approach towards this severe diagnosis. case report and review of the literature |
topic | Review |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3284653/ https://www.ncbi.nlm.nih.gov/pubmed/21918809 http://dx.doi.org/10.1007/s00431-011-1563-x |
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