Illustration of the congenital malformation and surgical procedures. (a) Type IV laryngotracheoesophageal clefts (LTEC) and type III esophageal atresia. (b) Step 1: suture of the tracheoesophageal fistula, dissection of the proximal esophageal pouch from the trachea, and separation of the neoesophageal tube from the trachea. (c) Step 2: separation of the cervical esophagus from the trachea. (d) Step 3: thoracic termino-terminal anastomosis of the esophagus (drawn by Dr. Salvatore Amoroso).

Illustration of the congenital malformation and surgical procedures. (a) Type IV laryngotracheoesophageal clefts (LTEC) and type III esophageal atresia. (b) Step 1: suture of the tracheoesophageal fistula, dissection of the proximal esophageal pouch from the trachea, and separation of the neoesophageal tube from the trachea. (c) Step 2: separation of the cervical esophagus from the trachea. (d) Step 3: thoracic termino-terminal anastomosis of the esophagus (drawn by Dr. Salvatore Amoroso).

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The causes of embryological developmental anomalies leading to laryngotracheoesophageal clefts (LTECs) are not known, but are proposed to be multifactorial, including genetic and environmental factors. Haploinsufficiency of the RERE gene might contribute to different phenotypes seen in individuals with 1p36 deletions. We describe a neonate of an ob...

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Objectives We are presenting a unique case of severe laryngo-tracheo-esophageal cleft in a preterm infant who remained asymptomatic for several days after birth. Laryngo-tracheo-esophageal cleft (LTEC) is a rare congenital anomaly, representing approximately 0.2–1.5% of congenital laryngeal malformations [Merei JM, Hutson JM. Embryogenesis of tracheo esophageal anomalies: a review. Pediatr Surg Int 2002;18:319–26]. There is an abnormal, posterior, sagittal communication between the larynx and the pharynx, which may extend downward between the trachea and the esophagus. Case presentation We report a case of LTEC in a preterm newborn whose mother had severe polyhydramnios. A preterm 34-week gestation female newborn was born in our institution whose mother had severe polyhydramnios during third trimester. She was postnatally diagnosed to have type 3 LTEC by the 19th day after birth. In the presence of a large common tracheo-esophageal cavity, the baby did not develop aspiration or respiratory distress despite feeding from birth. Conclusions This case report illustrates the many factors and the probable mechanisms involved in preventing aspiration.
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Deletion 1p36 syndrome is an established condition, characterized by neurodevelopmental disability and a recognizable pattern of malformation caused by deletion of the most distal band of the short arm of chromosome 1. It occurs in 1/5000 live births, and it is the most common terminal deletion observed in humans. The most important medical concerns are those related to neurodevelopmental disability, seizures, and heart defects. Management is symptom‐directed and largely supportive.