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Esophageal Atresia with distal TEF (tracheoesophageal fistula) The lower esophageal pouch connects abnormally to the trachea. The upper esophageal pouch ends blindly. 86% Type D Type 3C V Esophageal Atresia with both proximal and distal TEFs (two tracheoesophageal fistulas) Both the upper and lower esophageal pouch make an abnormal connection ...
Congenital TEF can arise due to failed fusion of the tracheoesophageal ridges after the fourth week of embryological development. [4] A fistula, from the Latin meaning 'a pipe', is an abnormal connection running either between two tubes or between a tube and a surface. In tracheo-esophageal fistula it runs between the trachea and the esophagus.
Esophageal atresia (EA) is a rare congenital malformation characterized by a lack of continuity between the lower and upper esophageal pouches, often associated with tracheoesophageal fistula. [7] Esophageal atresia with or without tracheoesophageal fistula (TEF) is the most common birth defect of the esophagus.
Type I is described as tracheal atresia, rather than tracheal agenesis. The trachea is absent proximally but there remains a short normal segment of the distal trachea. A tracheoesophageal fistula links the distal segment of the proto trachea to the oesophagus. It is estimated that 13% of cases of the disease are of type I. [2]
T - Tracheoesophageal fistula; E - Esophageal atresia; R - Renal (Kidney) and/or radial anomalies; L - Limb defects; Although it was not conclusive whether VACTERL should be defined by at least two or three component defects, [4] it is typically defined by the presence of at least three of the above congenital malformations. [5]
Developmental abnormalities of the tracheoesophageal septum can lead to a tracheoesophageal fistula. [6] This may be caused by certain mutations of genes involved in its development. [4] Other theories for the origin of tracheoesophageal fistula have been suggested. [7] [8] A laryngotracheal cleft is a related abnormality. [9]
Bilateral choanal atresia can cause respiratory distress and, in most cases, arrest. [5] Esophageal atresia and tracheoesophageal fistula can be deadly if they are left untreated. The latter causes an abnormal connection between the esophagus and the trachea, which causes esophageal fluids to enter the airways and cause respiratory problems.
Imperforate anus is usually present along with other birth defects—spinal problems, heart problems, tracheoesophageal fistula, esophageal atresia, renal anomalies and limb anomalies are among the possibilities, collectively being called the VACTERL association. [8]