E-mail: [email protected] Abstract: Tracheal agenesis is an extremely rare usually fatal congenital anomaly presenting with respiratory distress and aphonia. [content.iospress.com]

The authors report an infant with tracheal agenesis who presented with respiratory failure after birth. [ncbi.nlm.nih.gov]

Case presentation: Two cases with prenatally unknown tracheal agenesis are reported. [zora.uzh.ch]

• Atrial Septal Defect

  The associated cardiac malformations include tetralogy of Fallot, atrial septal defect, coarctation of aorta, right aortic arch, and Eisenmenger's syndrome. 3 Rarely, this abnormality has been reported in combination with patent ductus arteriosus. 4 Absent [appliedradiology.com]

  Furthermore, duodenal atresia; hemi-vertebrae; cardiac anomalies, including an atrial septal defect and a patent ductus arteriosus; and a thickened filum terminale were observed. [e-sciencecentral.org]

  Additional congenital heart defects associated with the disorder may include atrial septal defects (ASDs); hypoplastic left heart syndrome, a life-treating condition in which there is underdevelopment of the left ventricle, the aortic and/or mitral valve [rarediseases.org]

  An echocardiogram performed on the first day of life revealed a large atrial septal defect, unobstructed total anomalous pulmonary return to coronary sinus, doubles superior vena cava, tetralogy of Fallot, pulmonary artery hypoplasia, and interrupted [omicsonline.org]

  septal defect (ASD) and aberrant left subclavian artery. [academic.oup.com]

• Congestive Heart Failure

  A moderately-sized defect may affect the ability of the heart to pump blood efficiently to the lungs and the rest of the body (congestive heart failure). [rarediseases.org]

• Aspiration

  The most common symptom is aspiration. As a result, an infant or child may have respiratory distress or cyanosis with feeding. Severe aspiration leads to failure to thrive or recurrent pneumonia. [emedicine.medscape.com]

  View in PubMed Ultrasound-guided fine needle aspiration of major salivary gland masses and adjacent lymph nodes Ultrasound Q. 2011 Jun; 27(2):105-13.. [keck.usc.edu]

  Fistula and/or Esophageal Atresia Children with VACTERL association often have an abnormal connection between the windpipe and the tube that carries food from the throat to the stomach (tracheoesophageal fistula) potentially causing food to be inhaled (aspirated [rarediseases.org]

  On postoperative day 11, Patient #5 developed pneumonia after aspiration due to gastro-oesophageal reflux whilst on the ward. Antibiotic treatment was commenced with good result. [academic.oup.com]

  Early surgical intervention is necessary to prevent aspiration and offers the only hope for survival ( 14 ). [jtd.amegroups.com]

• Failure to Thrive

  Severe aspiration leads to failure to thrive or recurrent pneumonia. Excessive redundant mucosa may also cause stridor and airway obstruction. Additionally, may present with difficult intubation or difficulty ventilating secondary to large air leak. [emedicine.medscape.com]

• Suggestibility

  The presence in our patient of a tracheal abnormality in association with radial hypoplasia, single umbilical artery, tetralogy of Fallot, and left hydroureter initially suggested presence of the VACTERL association. [ncbi.nlm.nih.gov]

  In view of X-ray chest [Figure 1], suggestive of severe respiratory distress syndrome (RDS), natural bovine surfactant with 100 mg/kg of phospholipids was given through the "endotracheal tube," which showed improvement suggesting that a connection existed [jpgmonline.com]

• Irritability

  This big chunk of nasty booger comes out which irritated the esophagus a little bit and made Thomas upset. So have to quickly get the trach tube back in because he's upset and crying which is closing his airway off. [youcaring.com]

• Spinal Cord Syndrome

  (omphalocele), intestinal malrotation, and a condition called tethered spinal cord syndrome. [rarediseases.org]

FIGURE 2 Proposed diagnostic workup for a child presenting with symptoms suggestive of CTS. LPA, left pulmonary artery. [pediatrics.aappublications.org]

Our article will briefly describe tracheal and bronchial stenoses and other obstructive conditions, presenting an overview of their diagnostic workup. [jtd.amegroups.com]

Many tests are available to assist in the workup of congenital tracheal malformations. The initial otolaryngologic evaluation should include a fiberoptic nasopharyngolaryngoscopy to rule out any supraglottic or glottic abnormalities. [emedicine.medscape.com]

Management and treatment There is no long-term surgical solution because no suitable material for a tracheal prosthesis is available at present. [orpha.net]

The patient was born of a mother with mosaic Turner's syndrome at 35 weeks of gestation after premature rupture of the membranes during treatment for polyhydramnios. [ncbi.nlm.nih.gov]

If you have questions about which treatment is right for you, talk to your healthcare professional. [rarediseases.info.nih.gov]

It must be emphasized that as TA carries a fatal prognosis, great care must be taken in establishing the diagnosis. [ncbi.nlm.nih.gov]

Prognosis This malformation is usually fatal in newborns; however, one infant, who had tracheal agenesis with a bronchoesophageal fistula, was managed successfully. [orpha.net]

Prognosis - Tracheal agenesis without tracheoesophageal fistula Tracheal agenesis is a rare but fatal congenital tracheal malformation. [checkorphan.org]

We discuss possible etiologies of these malformations. [ncbi.nlm.nih.gov]

Etiology No risk factor for the occurrence of this malformation has ever been suggested. [orpha.net]

[…] increasingly severe perturbations in development fields encompassing the developing respiratory tract disturbance in the primary development field during blastogenesis with secondary vascular disruptions abnormal epithelial-mesenchymal interactions Etiology [humpath.com]

We describe five new cases of tracheal agenesis and report on epidemiological and numerical analyses of nearly 100 such cases with multiple congenital anomalies. [ncbi.nlm.nih.gov]

Summary Epidemiology The prevalence at birth is approximately 1 in 50 000. There is a male predominance and an association with prematurity and polyhydramnios. [orpha.net]

Non-neoplastic diseases are presented according to epidemiology, genetics, clinical manifestations, radiographic findings, pathology, cytology, laboratory findings, pathogenesis, differential diagnosis, prognosis and natural history. [books.google.de]

Smith, Haemangiomas and associated congenital malformations in a large population‐based sample of infants, Paediatric and Perinatal Epidemiology, 22, 6, (520-529), (2008). Yina Li, Julie Gordon, Nancy R. [doi.org]

Clinical and epidemiological characterstics of thyroid hemiagenesis:Ultrasound screening in patients with thyroid disease and normal population. Endocrine 2008;33:338-41. 12. Braun E, Windisch G, Wolf G, Hausleitner L, Anderhuber F. [mjdrdypu.org]

Staging of Alberto de Hoyos 2177 Less Common Malignant Tumors of the Diagnostic Investigation of Mediastinal 2195 The Use of Prosthetic Grafts to Replace 195 Poorly Differentiated Carcinoma of the Mediastinum 2411 2261 Benign and Malignant Neurogenic 2415 Pathophysiology [books.google.com]

This thoroughly reworked edition includes new classification schemes and the latest understanding of the pathophysiology and molecular aspects of a wide range of diseases. [books.google.de]

Pathophysiology In laminar airflow, resistance is inversely proportional to the fourth power of the radius. Thus, even small changes in airway caliber can have dramatic effects on airway resistance. [entokey.com]

This review will firstly discuss the anatomy and pathophysiology of CTS and outline the various clinical presentations associated with the disorder. [pediatrics.aappublications.org]

We report a long-term survivor with tracheal agenesis in whom a Gortex external esophageal stent using radial traction sutures was applied to prevent the esophagus from collapsing. [ncbi.nlm.nih.gov]

Prevention - Tracheal agenesis without tracheoesophageal fistula Cannot be prevented. [checkorphan.org]

Prevents headaches 8. Prevents cramps and pains 9. Helps regulate body temperature 10. Prevents backaches 11. Improves heart health 12. Prevents bad breath 13. Takes edge off hangovers 14. [pictaram.org]