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Agenesia traqueal
ORPHA:3346CID-10 · Q32.1CID-11 · LA73.YDOENÇA RARA

A agenesia traqueal (AT) é uma malformação congênita rara na qual a traqueia pode estar completamente ausente (agenesia) ou parcialmente instalada, mas subdesenvolvida (atresia). Em ambos os casos, falta comunicação proximal-distal entre a laringe e os alvéolos dos pulmões.

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Introdução

O que você precisa saber de cara

📋

A agenesia traqueal (AT) é uma malformação congênita rara na qual a traqueia pode estar completamente ausente (agenesia) ou parcialmente instalada, mas subdesenvolvida (atresia). Em ambos os casos, falta comunicação proximal-distal entre a laringe e os alvéolos dos pulmões.

Publicações científicas
189 artigos
Último publicado: 2026 Feb 5

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
<1 / 1 000 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Europe
Início
Antenatal
+ neonatal
🏥
SUS: Cobertura mínimaScore: 15%
CID-10: Q32.1
🇧🇷Dados SUS / DATASUS
PROCEDIMENTOS SIGTAP (5)
0202010503
Cariótipo — bandas G, Q ou Rgenetic_test
0202010600
Pesquisa de microdeleções/microduplicações por FISHlab_test
0202010694
Sequenciamento completo do exoma (WES)rehabilitation
0202010260
Dosagem de alfa-fetoproteína
0301070040
Atendimento em reabilitação — doenças raras
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Entender a doença

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Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Partes do corpo afetadas

🫁
Pulmão
2 sintomas
🦴
Ossos e articulações
1 sintomas
❤️
Coração
1 sintomas

+ 1 sintomas em outras categorias

Características mais comuns

90%prev.
Atresia traqueal
Muito frequente (99-80%)
90%prev.
Aplasia/Hipoplasia dos pulmões
Muito frequente (99-80%)
90%prev.
Polidrâmnio
Muito frequente (99-80%)
90%prev.
Morfologia anormal do septo cardíaco
Muito frequente (99-80%)
90%prev.
Insuficiência respiratória
Muito frequente (99-80%)
5sintomas
Muito frequente (5)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 5 características clínicas mais associadas, ordenadas por frequência.

Atresia traquealTracheal atresia
Muito frequente (99-80%)90%
Aplasia/Hipoplasia dos pulmõesAplasia/Hypoplasia of the lungs
Muito frequente (99-80%)90%
PolidrâmnioPolyhydramnios
Muito frequente (99-80%)90%
Morfologia anormal do septo cardíacoAbnormal cardiac septum morphology
Muito frequente (99-80%)90%
Insuficiência respiratóriaRespiratory insufficiency
Muito frequente (99-80%)90%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico189PubMed
Últimos 10 anos121publicações
Pico202229 papers
Linha do tempo
2026Hoje · 2026🧪 2010Primeiro ensaio clínico📈 2022Ano de pico
Publicações por ano (últimos 10 anos)

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Genética e causas

O que está alterado no DNA e como passa nas famílias

🧬

Nenhum gene associado encontrado

Os dados genéticos desta condição ainda estão sendo catalogados.

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

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Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Pipeline de tratamentos
Pipeline regulatório — de medicamentos já aprovados a drogas em pesquisa exploratória.
·Pré-clínico1
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 1 ensaio
Carregando informações de tratamento...

Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Agenesia traqueal

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Ensaios clínicos abertos e novidades científicas recentes

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Publicações mais relevantes

Timeline de publicações
56 papers (10 anos)
#1

Tracheal agenesis diagnosed by supraglottic airway-assisted endoscopic evaluation during neonatal resuscitation: a case report.

JA clinical reports2026 Feb 05

Tracheal agenesis is an exceptionally rare and typically lethal congenital airway anomaly presenting with failed intubation. We report a case of unrecognized tracheal agenesis in which supraglottic airway-assisted ventilation enabled concurrent fiberoptic endoscopic evaluation during neonatal resuscitation. A preterm male neonate born at 31 weeks and 1 day of gestation with polyhydramnios and suspected duodenal atresia developed severe respiratory failure immediately after delivery. Repeated attempts at tracheal intubation were unsuccessful despite vocal cord–like structures being seen. Placement of a size 0.5 supraglottic airway (Air-Q®) resulted in transient partial ventilation with intermittent colorimetric carbon dioxide detection, permitting fiberoptic endoscopic evaluation. Endoscopy demonstrated a blind-ending subglottic pouch and a distal tracheoesophageal fistula, strongly suggesting tracheal agenesis; computed tomography subsequently confirmed the diagnosis of Floyd type II tracheal agenesis. Early supraglottic airway-assisted endoscopic evaluation may facilitate rapid recognition of tracheal agenesis during neonatal resuscitation and support timely, multidisciplinary decision-making after failed intubation. The online version contains supplementary material available at 10.1186/s40981-026-00852-w.

#2

Global research hotspots and trends in the field of surgical treatment of congenital tracheal stenosis in infants and children over the past 40 years: A bibliometric and visualization study.

Medicine2025 Jul 04

Congenital tracheal stenosis (CTS) is a rare and highly fatal airway obstructive disorder. Recent years have seen the recognition of several forms of surgery as safe and effective means of improving the survival of children with CTS. It is important to complement the comprehensive and systematic pulse combing analysis of this research field. In order to give future researchers ideas and references, we examine the literature on the surgical treatment of CTS during the past 40 years and compile a summary of the cutting-edge trends and research hotspots in this area. A search was conducted through the Web of Science database's core dataset for relevant publications pertaining to the surgical treatment of CTS from 1983 to 2024. CiteSpace 6.3, VOSviewer 1.6.18, Scimago Graphica 1.0.26, R-bibliometrix 4.6.1, and Pajek 5.16 tools were used for analysis and visualization. 327 publications total were found. With 82 papers, the US ranked first. Great Ormond Street Hospital for Children National Health Service Foundation Trust was ranked first for institutions with 24 papers. With 48 papers, the Journal of Pediatric Surgery had the top spot among journals, while Elliott MJ had the highest ranking among authors with 15. Study keywords were sliding tracheoplasty, congenital long tracheal stenosis, airway reconstruction, interventional procedures, airway stenting, intact tracheal rings, degradable airway stents, modified sliding tracheoplasty, trachelectomy, difficult intubation, extracorporeal membrane oxygenation, central airway stenosis, balloon-expandable metal stents, airway mucosa, Pierre Robin sequence, ventilation. The existing body of research indicates that there is still a great deal of untapped potential in the surgical treatment of CTS. The research hotspot is the clinical efficacy study of selecting the optimal timing and sequence of surgical procedures for the treatment of CTS combined with cardiovascular disease, the use of extracorporeal circulatory devices as an aid to reduce the surgical mortality rate, and the exploring preoperative predictive risk by reviewing patient cases to explore preoperative predictive risk factor studies. The reliability and feasibility of a new index to objectively assess tracheal flow function before and after surgery, new bioabsorbable scaffolds with longer degradation times and increased radial expansion, and new technologies such as visualization surgery.

#3

Microcomputed Tomography in the Adriamycin Rat Model of Malformations-Preliminary Results.

Biomolecules2025 Apr 11

Adriamycin, a chemotherapy drug, was first shown to induce malformations in rat embryos in 1978, with subsequent studies focusing on the development of esophageal atresia. Recently, we examined early tracheal development in healthy rat embryos using microcomputed tomography, which is useful for visualizing the morphology during embryonic development. Here, we use this technique to show malformations in rat embryos after Adriamycin treatment in the form of an atlas. Pregnant rats received Adriamycin [1.75 mg/kg body weight] intraperitoneally once daily from day 7 to 9. The embryos were harvested between the 16th and 21st embryonic day, fixed in Bouin's solution and subsequently dried in a critical point dryer. The dried embryos were scanned using microcomputed tomography. Existing datasets of normal embryos served as controls. The embryos affected by Adriamycin showed a broad spectrum of malformations that have only partially been described in previous publications. Our preliminary data show a large number of malformations that can be attributed to the VACTERL association (Vertebral, Anorectal, Cardiac, Tracheoesophageal, Renal, and Limb anomalies). In addition, cardiovascular malformations have been observed that may directly affect the esophageal/tracheal morphology. Micro CT imaging used in Adriamycin-affected embryos shows the full spectrum of induced malformations.

#4

Tracheal agenesis: the importance of teamwork in an uncommon pathology, challenging diagnosis, and high mortality-a case report.

Frontiers in pediatrics2024

We present the case of a patient with an unexpected postnatal diagnosis of tracheal agenesis, a severe and rare pathology with fewer than 200 cases documented in the literature, typically diagnosed postmortem. In our instance, early diagnosis was achieved through collaborative efforts and teamwork among various professionals. We provide illustrative images and videos to assist colleagues in identifying this congenital anomaly. The patient is a term newborn with prenatal indicators of polyhydramnios and a single umbilical artery. Upon birth, the infant exhibited severe respiratory distress, and orotracheal intubation via direct laryngoscopy was unfeasible. Consequently, an urgent fibrobronchoscopy, conducted by pediatric surgeons, led to the diagnosis of tracheal agenesis with tracheoesophageal fistula and the placement of a directed endotracheal tube. This intervention facilitated temporary ventilation until parental consensus on management was achieved. Following a multidisciplinary consultation, the decision was made to proceed with extracorporeal membrane oxygenation. Unfortunately, the patient experienced a prolonged refractory cardiorespiratory arrest and died after 7 h of life in his mother's arms. Teamwork in neonatology is indispensable when addressing emergent pathologies. In our experience, multidisciplinary management, including anesthesiologists and pediatric surgeons, should be contemplated in complex scenarios.

#5

Tracheal agenesis versus tracheal atresia: anatomical conditions, pathomechanisms and causes with a possible link to a novel MAPK11 variant in one case.

Orphanet journal of rare diseases2024 Mar 12

In this study we aimed to describe the morphological and pathogenetic differences between tracheal agenesis and tracheal atresia, which are not clearly distinguished from each other in the literature, and to contribute thereby to the understanding and management of these conditions. Both tracheal agenesis and tracheal atresia represent rare disorders of still unknown aetiology that cannot be detected by prenatal ultrasound. If the affected foetuses survive until birth these conditions result in respiratory failure and in futile attempts to rescue the infant's life. Autopsies and genetic analyses, including singleton or trio exome sequencing, were performed on five neonates/foetuses with tracheal agenesis and three foetuses with tracheal atresia. Tracheal agenesis was characterized by absence of the sublaryngeal trachea and presence of a bronchooesophageal fistula and by pulmonary isomerism and occurred as an isolated malformation complex or as part of a VACTERL association. Special findings were an additional so-called 'pig bronchus' and a first case of tracheal agenesis with sirenomelia. Tracheal atresia presenting with partial obliteration of its lumen and persistence of a fibromuscular streak resulted in CHAOS. This condition was associated with normal lung lobulation and single, non-VACTERL type malformations. Trio ES revealed a novel variant of MAPK11 in one tracheal agenesis case. Its involvement in tracheooesophageal malformation is herein discussed, but remains hypothetical. Tracheal agenesis and tracheal atresia represent different disease entities in terms of morphology, pathogenesis and accompanying anomalies due to a primary developmental and secondary disruptive possibly vascular disturbance, respectively.

Publicações recentes

Ver todas no PubMed

📚 EuropePMC143 artigos no totalmostrando 119

2026

Tracheal agenesis diagnosed by supraglottic airway-assisted endoscopic evaluation during neonatal resuscitation: a case report.

JA clinical reports
2025

Global research hotspots and trends in the field of surgical treatment of congenital tracheal stenosis in infants and children over the past 40 years: A bibliometric and visualization study.

Medicine
2025

Microcomputed Tomography in the Adriamycin Rat Model of Malformations-Preliminary Results.

Biomolecules
2024

A case report of type II Floyd tracheal agenesis with staged tracheal and alimentary reconstructions.

Surgical case reports
2024

Esophageal reconstruction in a case of tracheal agenesis.

Pediatrics international : official journal of the Japan Pediatric Society
2024

Tracheal agenesis: the importance of teamwork in an uncommon pathology, challenging diagnosis, and high mortality-a case report.

Frontiers in pediatrics
2024

Rare type of tracheal agenesis: Unexpected presentation and immediate consideration of emergent esophageal intubation in neonatal resuscitation program. Case reports and review of the literature.

Pediatric pulmonology
2024

Long- term outcomes of congenital tracheal stenosis after slide tracheoplasty.

Pediatric surgery international
2024

Tracheal agenesis versus tracheal atresia: anatomical conditions, pathomechanisms and causes with a possible link to a novel MAPK11 variant in one case.

Orphanet journal of rare diseases
2024

Stumbled across a rare entity tracheal agenesis - A lesson learned.

Saudi journal of anaesthesia
2023

External Esophageal Stenting Technique in Palliation for Tracheal Agenesis in a Case of Esophageal Lung: A Lesson Learned from the Experience for Tracheomalacia.

Children (Basel, Switzerland)
2024

TBX5 pathogenic variant in a patient with congenital heart defect and tracheal stenosis.

Congenital anomalies
2023

Radiographic determination of the tracheal indices at caudal cervical, thoracic-inlet, and intra-thoracic trachea in non-bulldog brachycephalic breeds without evidence of cardiorespiratory disease.

BMC veterinary research
2023

[A case of left pulmonary artery sling combined with congenital tracheal stenosis in an adult].

Zhonghua jie he he hu xi za zhi = Zhonghua jiehe he huxi zazhi = Chinese journal of tuberculosis and respiratory diseases
2023

Tracheal Agenesis: One Hospital's Nursing Experience With This Rare Airway Anomaly Case Report.

Advances in neonatal care : official journal of the National Association of Neonatal Nurses
2023

Treatment of long-segment congenital tracheal stenosis with congenital cardiovascular defects in infancy.

International journal of pediatric otorhinolaryngology
2023

Incidence of congenital tracheal stenosis in left pulmonary artery sling diagnosed by bronchoscopy.

Pediatric surgery international
2023

Use of Virtual Reality and Three-Dimensional Printing in the Surgical Planning of Slide Tracheoplasty.

World journal for pediatric &amp; congenital heart surgery
2023

Impact of Tracheal Arborization and Lung Hypoplasia in Repair of Pulmonary Artery Sling in Combination With Long-Segment Tracheal Stenosis.

World journal for pediatric &amp; congenital heart surgery
2023

Tracheal reconstruction surgery for congenital tracheal stenosis.

Pediatric surgery international
2023

Successful application of the innovation process to a case of Floyd Type I tracheal agenesis.

Surgery open science
2022

Development of a Lung Vacancy Mouse Model through CRISPR/Cas9-Mediated Deletion of Thyroid Transcription Factor 1 Exon 2.

Cells
2022

Anatomy and embryology of tracheo-esophageal fistula.

Seminars in pediatric surgery
2022

Slide Tracheoplasty: Complete Tracheal Rings and Beyond.

Otolaryngologic clinics of North America
2022

Tracheal necrosis due to tracheal tube cuff in congenital tracheal stenosis.

Pediatrics international : official journal of the Japan Pediatric Society
2022

Simulated slide tracheoplasty for congenital tracheal stenosis using three-dimensional printed models.

Pediatric surgery international
2022

Computational fluid dynamics assessment of congenital tracheal stenosis.

Pediatric surgery international
2022

Surgical management of congenital tracheal stenosis associated with complex cardiovascular anomalies.

Pediatric surgery international
2022

Recovery of cyanosis after esophageal intubation in a neonate with tracheal agenesis: a case report.

The Turkish journal of pediatrics
2022

International Pediatric Otolaryngology Group (IPOG) consensus recommendations: Evaluation and management of congenital tracheal stenosis.

International journal of pediatric otorhinolaryngology
2022

Successful surgical treatment of congenital tracheal stenosis combined with tracheal bronchus and left pulmonary artery sling: a 10-year single-institution experience.

Pediatric surgery international
2022

Airway performance in infants with congenital tracheal stenosis associated with unilateral pulmonary agenesis: effect of tracheal shape on energy flux.

Medical &amp; biological engineering &amp; computing
2021

'Unventilable bronquiolitis' as symptom of congenital tracheal stenosis.

Archivos de bronconeumologia
2022

[Ring-sling complex association with pig bronchus: a pediatric case report].

Archivos argentinos de pediatria
2022

Outcomes of slide tracheoplasty for congenital tracheal stenosis in 80 children: A 22-year single-center experience.

Journal of pediatric surgery
2022

CT imaging for pulmonary artery sling with tracheal stenosis and hypoplastic right lung.

European journal of cardio-thoracic surgery : official journal of the European Association for Cardio-thoracic Surgery
2022

Surgical outcomes of pulmonary artery sling and congenital tracheal stenosis with right lung anomaly.

European journal of cardio-thoracic surgery : official journal of the European Association for Cardio-thoracic Surgery
2022

New insights in the surgical treatment of long-segment congenital tracheal stenosis.

European journal of cardio-thoracic surgery : official journal of the European Association for Cardio-thoracic Surgery
2022

Commentary: Slide tracheoplasty for congenital tracheal stenosis: Sliding by the missing pieces.

The Journal of thoracic and cardiovascular surgery
2022

Tracheal Reconstruction for Congenital Tracheal Stenosis: A 950-Gram Neonate.

The Annals of thoracic surgery
2021

Tracheal agenesis: Esophageal airway support with a 3-dimensional-printed bioresorbable splint.

JTCVS techniques
2022

The challenging airway: Tracheal agenesis in the newborn.

Journal of neonatal-perinatal medicine
2022

Surgical management of long-segment congenital tracheal stenosis with tracheobronchial malacia.

European journal of cardio-thoracic surgery : official journal of the European Association for Cardio-thoracic Surgery
2022

Surgical management strategy of slide tracheoplasty for infants with congenital tracheal stenosis.

The Journal of thoracic and cardiovascular surgery
2022

Closed-PICU perioperative management of congenital tracheal stenosis.

Pediatrics international : official journal of the Japan Pediatric Society
2021

Prenatal Diagnosis and Outcome of Tracheal Agenesis as Part of Congenital High Airway Obstruction Syndrome. Case Presentation and Literature Review.

Medicina (Kaunas, Lithuania)
2022

Congenital anomalies of the large intrathoracic airways.

Paediatric anaesthesia
2022

A case of tracheal agenesis: Prenatal imaging resembles esophageal atresia.

Pediatrics international : official journal of the Japan Pediatric Society
2021

Infectious complications after tracheoplasty for congenital tracheal stenosis: a retrospective comparative study.

Pediatric surgery international
2022

Slide Tracheoplasty for Congenital Tracheal Stenosis Repair: A Systematic Review and Meta-Analysis.

The Laryngoscope
2022

Incidence and risk factor of vocal cord paralysis following slide tracheoplasty for congenital tracheal stenosis: a retrospective observational study.

Cardiology in the young
2021

Congenital airway anomalies.

Seminars in pediatric surgery
2022

Risk Stratification of Slide Tracheoplasty for Pediatric Airway Stenosis.

The Annals of thoracic surgery
2021

Molecular crosstalk in tracheal development and its recurrence in adult tissue regeneration.

Developmental dynamics : an official publication of the American Association of Anatomists
2021

Neonatal Respiratory Distress and Airway Emergency: Report of Two Cases.

Children (Basel, Switzerland)
2021

Improving community-based care for children with a rare condition: The example of long-segment congenital tracheal stenosis and perceptions of health professionals, parents and teachers.

International journal of pediatric otorhinolaryngology
2021

Tracheal Agenesis with Bronchoesophageal Fistula.

The New England journal of medicine
2022

Lung Hypoplasia Associated With Ring-Sling Complex Is Usually Right-Sided.

The Annals of thoracic surgery
2021

Tracheal anomalies associated with Down syndrome: A systematic review.

Pediatric pulmonology
2020

Lethal severe congenital tracheal stenosis with tracheal ring complicating respiratory distress syndrome in an extremely premature infant: first reported case in Qatar with a literature review.

BMJ case reports
2020

Prenatal diagnosis of pulmonary artery sling associated with tracheal agenesis: A case report.

Echocardiography (Mount Kisco, N.Y.)
2020

CHAOS: A fetal autopsy report.

Journal of family medicine and primary care
2021

Tracheal Agenesis: Vertical Division of the Native Esophagus - A Novel Surgical Approach and Review of the Literature.

The Annals of otology, rhinology, and laryngology
2020

The diagnostic role of multidetector computed tomography in congenital tracheal agenesis.

Pediatrics and neonatology
2021

Congenital Absence of Tracheal or Bronchial Rings.

Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery
2020

Tracheal agenesis clinical presentation in a preterm infant: Prenatal MRI difficulties and autopsy findings.

Radiology case reports
2020

Unexpected tracheal agenesis with prenatal diagnosis of aortic coarctation, lung hyperecogenicity and polyhydramnios: a case report.

Italian journal of pediatrics
2020

Computational Evaluation of Surgical Design for Multisegmental Complex Congenital Tracheal Stenosis.

BioMed research international
2020

Difficult intubation and anesthetic management in an adult patient with undiagnosed congenital tracheal stenosis: a case report.

The Journal of international medical research
2022

Tracheoplasty for Congenital Tracheal Stenosis with Bilateral Tracheal Bronchus.

Annals of thoracic and cardiovascular surgery : official journal of the Association of Thoracic and Cardiovascular Surgeons of Asia
2020

Clinical and structural aspects of tracheal stenosis and a novel embryological hypothesis of left pulmonary artery sling.

Pediatric pulmonology
2020

Outcome of congenital tracheal stenosis in children over two decades in a national cardiothoracic surgical unit.

Cardiology in the young
2020

Criticality in tailoring the treatment for tracheoesophageal fistulas in children.

European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery
2019

Prevalence of pectus excavatum (PE), pectus carinatum (PC), tracheal hypoplasia, thoracic spine deformities and lateral heart displacement in thoracic radiographs of screw-tailed brachycephalic dogs.

PloS one
2019

[Congenital tracheal stenosis: from clinic to treatment.].

Revue medicale suisse
2019

Use of non-invasive ventilation in children with congenital tracheal stenosis.

International journal of pediatric otorhinolaryngology
2019

Causes of death shortly after delivery and medical malpractice claims in congenital high airway obstruction syndrome: Review of the literature.

Legal medicine (Tokyo, Japan)
2020

Tracheal agenesis with esophageal atresia: an autopsy case report of a variant incompatible with life.

Fetal and pediatric pathology
2019

A pilot study of a novel biodegradable magnesium alloy airway stent in a rabbit model.

International journal of pediatric otorhinolaryngology
2019

Fluid dynamic assessment of tracheal flow in infants with congenital tracheal stenosis before and after surgery.

Medical &amp; biological engineering &amp; computing
2018

Prenatal diagnosis of congenital high airway obstruction syndrome.

The Indian journal of radiology &amp; imaging
2018

Tracheal agenesis in a new born: lessons learnt.

BMJ case reports
2018

Congenital tracheal malformations.

Pediatric surgery international
2019

Management of CHAOS by intact cord resuscitation: case report and literature review.

The journal of maternal-fetal &amp; neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians
2019

Incidental Diagnosis of Congenital Tracheal Stenosis in Children With Congenital Heart Disease Presenting for Cardiac Surgery.

Journal of cardiothoracic and vascular anesthesia
2018

Revision thoracic slide tracheoplasty: Outcomes following unsuccessful tracheal reconstruction.

The Laryngoscope
2018

Successful Use of Aortic Homograft for Residual Tracheal Stenosis Following Slide Tracheoplasty.

Seminars in thoracic and cardiovascular surgery
2018

EXIT (ex utero intrapartum treatment) in a growth restricted fetus with tracheal atresia.

International journal of pediatric otorhinolaryngology
2018

Bronchial Mismatch as a Predictor of Respiratory Failure After Congenital Tracheal Stenosis Repair.

The Annals of thoracic surgery
2018

Clinical outcomes after tracheoplasty in patients with congenital tracheal stenosis in 1997-2014.

Journal of pediatric surgery
2017

Case-based discussion from the neonatal intensive care unit: a case of an intentional oesophageal intubation.

Thorax
2018

Tracheal agenesis: optimization of computed tomography diagnosis by airway ventilation.

Pediatric radiology
2019

Use of ex utero intrapartum treatment procedure in fetal neck and high airway anomalies - report of four clinical cases.

The journal of maternal-fetal &amp; neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians
2017

Clinical presentation and airway management of tracheal atresia: A systematic review.

International journal of pediatric otorhinolaryngology
2017

[Surgical treatment of tracheal stenosis. A 11-year report in a pediatric hospital].

Cirugia pediatrica : organo oficial de la Sociedad Espanola de Cirugia Pediatrica
2017

Anesthetic Management of an Infant With Postnatally Diagnosed Tracheal Agenesis Undergoing Tracheal Reconstruction: A Case Report.

A &amp; A case reports
2017

Neonatal esophageal trachealization and esophagocarinoplasty in the treatment of flow-limited Floyd II tracheal agenesis.

The Journal of thoracic and cardiovascular surgery
2017

Life-Saving Esophageal Intubation in Neonate With Undiagnosed Tracheal Agenesis: A Case Report.

A &amp; A case reports
2017

Tracheal agenesis: Salvaging the unsalvageable.

The Journal of thoracic and cardiovascular surgery
2017

The role of adjunctive procedures in reducing postoperative tracheobronchial obstruction in single lung patients with congenital tracheal stenosis undergoing slide tracheoplasty.

Journal of pediatric surgery
2017

Two case reports of unexpected tracheal agenesis in the neonate: 3 C's beyond algorithms for difficult airway management.

BMC pediatrics
2017

Pediatric airway surgery.

Pediatric surgery international
2016

[CHAOS in neonatal emergency care? : Tracheal agenesis in the obstetric theatre].

Der Anaesthesist
2016

Advances in Surgical Treatment of Congenital Airway Disease.

Seminars in thoracic and cardiovascular surgery
2016

Tracheal agenesis: A report of two cases.

Journal of postgraduate medicine
2016

Clinical equivalency of cardiopulmonary bypass and extracorporeal membrane oxygenation support for pediatric tracheal reconstruction.

Pediatric surgery international
2016

Emergency management for congenital tracheal stenosis with endoluminal stenting in pediatric intensive care units.

Therapeutic advances in respiratory disease
2016

A 37-Year-Old Woman with Dyspnea and Stridor.

Annals of the American Thoracic Society
2016

Tracheal agenesis, a frightening scenario.

The Journal of laryngology and otology
2015

Tracheal Agenesis Reconstruction with External Esophageal Stenting: Postoperative Results and Complications.

The Korean journal of thoracic and cardiovascular surgery
2015

Total Airway Reconstruction in the Neonate: Combined Mandibular Distraction and Slide Tracheoplasty for Multiple Level Airway Obstruction.

The Journal of craniofacial surgery
2015

Long-term outcomes of four patients with tracheal agenesis who underwent airway and esophageal reconstruction.

Journal of pediatric surgery
2015

[Anesthesia Management for Primary Cleft Lip Closure in an Infant with Congenital Total Length Complete Tracheal Rings].

Masui. The Japanese journal of anesthesiology
2016

Tracheal Atresia with Segmental Esophageal Duplication: An Unusual Anatomic Arrangement.

Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society
2015

Management of Congenital Tracheal Stenosis.

Pediatrics
2016

Rare Upper Airway Anomalies.

Paediatric respiratory reviews
2015

Tracheal agenesis: a challenging prenatal diagnosis-contribution of fetal MRI.

Case reports in obstetrics and gynecology
2015

Management of tracheobronchial obstruction in infants using metallic stents: long-term outcome.

Pediatric surgery international
2015

Modified end-to-end anastomosis for the treatment of congenital tracheal stenosis with a bridging bronchus.

The Annals of thoracic surgery
Ver todos os 143 no EuropePMC

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Ainda não existe comunidade no Raras para Agenesia traqueal

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Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

Referências e fontes

Bases de dados externas citadas neste artigo

Publicações científicas

Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.

  1. Tracheal agenesis diagnosed by supraglottic airway-assisted endoscopic evaluation during neonatal resuscitation: a case report.
    JA clinical reports· 2026· PMID 41644758mais citado
  2. Global research hotspots and trends in the field of surgical treatment of congenital tracheal stenosis in infants and children over the past 40 years: A bibliometric and visualization study.
    Medicine· 2025· PMID 40629600mais citado
  3. Microcomputed Tomography in the Adriamycin Rat Model of Malformations-Preliminary Results.
    Biomolecules· 2025· PMID 40305302mais citado
  4. Tracheal agenesis: the importance of teamwork in an uncommon pathology, challenging diagnosis, and high mortality-a case report.
    Frontiers in pediatrics· 2024· PMID 39055618mais citado
  5. Tracheal agenesis versus tracheal atresia: anatomical conditions, pathomechanisms and causes with a possible link to a novel MAPK11 variant in one case.
    Orphanet journal of rare diseases· 2024· PMID 38475835mais citado
  6. A case report of type II Floyd tracheal agenesis with staged tracheal and alimentary reconstructions.
    Surg Case Rep· 2024· PMID 39586890recente
  7. Esophageal reconstruction in a case of tracheal agenesis.
    Pediatr Int· 2024· PMID 39283142recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:3346(Orphanet)
  2. MONDO:0018058(MONDO)
  3. GARD:5233(GARD (NIH))
  4. Busca completa no PubMed(PubMed)
  5. Q17093301(Wikidata)

Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.

Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar

Agenesia traqueal
Compêndio · Raras BR

Agenesia traqueal

ORPHA:3346 · MONDO:0018058
Prevalência
<1 / 1 000 000
Herança
Unknown
CID-10
Q32.1 · Outras malformações congênitas da traquéia
CID-11
Início
Antenatal, Neonatal
Prevalência
0.0 (Europe)
MedGen
UMLS
C1261567
EuropePMC
Wikidata
Papers 10a
DiscussaoAtiva

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