Esophageal atresia is a common and life-threatening birth defect with a poorly understood etiology. In this study, we analyzed the sequence variants of coding regions for a set of esophageal atresia-related genes including MYCN, SOX2, CHD7, GLI3, FGFR2 and PTEN for mutations using PCR-based target enrichment and next-generation sequencing in 27 patients with esophageal atresia. Genomic copy num...

Survivors of esophageal atresia are reaching their adulthood in large numbers for the first time enabling assessment of true long-term outcome among this group of patients. This review summarizes the current knowledge on the subject focusing on late symptoms and complications, esophageal pathology and pulmonary function. Relationships between esophageal dysmotility, gastroesophageal reflux, eso...

BACKGROUND The diagnosis of esophageal atresia may be suspected on prenatal ultrasound scan in fetuses with a small or absent stomach or unexplained polyhydramnios. However, these findings are thought to have a low positive predictive value and clinical decisions affecting timing or site of delivery may be made erroneously. The authors evaluated the accuracy of fetal sonography followed by magn...

SUMMARY A radiologically gasless abdomen in a neonate with EA is usually regarded as being pathognomonic of an absence of distal T.E.F. It has been estimated that up to 1.5% of patient with a distal fistula may have a radiologically gasless abdomens as a manifestation of a very small fistula plugged with mucus. In this case a contrast study via the gastrostomy demonstrated a fistula between th...

More than 50% of infants with esophageal atresia have associated anomalies. We present a case report of a 46XX neonate with long-gap esophageal atresia and tracheoesophageal fistula (EA/TEF), anorectal malformation, bowel duplication and vaginal agenesis. This is an unusual association of abnormalities which had not yet described in literature.

  A male neonate from a 23 year-old mother by cesarean section without complication in labor or delivery had vomiting from birth for 9 days and lost 400 grams of body weight. He had severe dehydration upon admission to our hospital. After treating his dehydration and assessment of his problem by laboratory tests and radiography we found that he had esophageal atresia without hypoglycemia. We re...

The treatment of esophageal atresia is not centralized in Germany. Therefore, high numbers of departments are involved. Data on the results of esophageal atresia repair from Germany are lacking. The aim of this study was to evaluate the early postoperative results after repair of esophageal atresia based on unbiased data of a German health insurance. We aimed to determine whether characteristic...

Esophageal atresia (EA) occurs when the upper part of the esophagus does not connect with the lower part of esophagus and stomach. Tracheoesophageal fistula (TEF) is an abnormal connection between the upper part of the esophagus and the trachea. Treatment for esophageal atresia has advanced over several decades due to improvements in surgical techniques and neonatal intensive care. The aim is t...

Whenever a newborn infant presents with excessive salivation and failure to pass nasogastric tube, one of the 5 major types of esophageal atresia is suspected. We report a rare case where a newborn infant presented with features of esophageal atresia due to membranous diaphragm.

A 2-day-old preterm female neonate weighing 1.6 kg and having excessive frothing from mouth was investigated for suspected esophageal atresia and tracheoesophageal fistula. X-ray findings of an unusually low-ending upper pouch (up to T8 level) and the absence of gas in abdomen lead to suspicion of an unusual variety of esophageal atresia. Hence unlike the usual management of pure esophageal atr...