Type IV Laryngotracheoesophageal Cleft Associated with Type III Esophageal Atresia in 1p36 Deletions Containing the RERE Gene: Is There a Causal Role for the Genetic Alteration?
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 w...
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doaj-c7e3ba14c8fd4c50a5299720b55daeb32020-11-24T23:26:28ZengHindawi LimitedCase Reports in Pediatrics2090-68032090-68112018-01-01201810.1155/2018/40605274060527Type IV Laryngotracheoesophageal Cleft Associated with Type III Esophageal Atresia in 1p36 Deletions Containing the RERE Gene: Is There a Causal Role for the Genetic Alteration?Gloria Pelizzo0Aurora Puglisi1Maria Lapi2Maria Piccione3Federico Matina4Martina Busè5Giovanni Battista Mura6Giuseppe Re7Valeria Calcaterra8Pediatric Surgery Unit, Pediatric Surgery Unit, Children’s Hospital “G. Di Cristina”, ARNAS “Civico-Di Cristina-Benfratelli”, Palermo, ItalyPediatric Anesthesiology and Intensive Care Unit, Pediatric Anesthesiology and Intensive Care Unit, Children’s Hospital “G. Di Cristina”, ARNAS “Civico-Di Cristina-Benfratelli”, Palermo, ItalyPediatric Anesthesiology and Intensive Care Unit, Pediatric Anesthesiology and Intensive Care Unit, Children’s Hospital “G. Di Cristina”, ARNAS “Civico-Di Cristina-Benfratelli”, Palermo, ItalyDepartment of Sciences for Health Promotion and Mother and Child Care “Giuseppe D’Alessandro”, University of Palermo, Palermo, ItalyNeonatal Intensive Care Unit, A.O.U.P. “P. Giaccone”, Department of Sciences for Health Promotion and Mother and Child Care “G. D’Alessandro”, Palermo, ItalyDepartment of Sciences for Health Promotion and Mother and Child Care “Giuseppe D’Alessandro”, University of Palermo, Palermo, ItalyPediatric Surgery Unit, Pediatric Surgery Unit, Children’s Hospital “G. Di Cristina”, ARNAS “Civico-Di Cristina-Benfratelli”, Palermo, ItalyPediatric Anesthesiology and Intensive Care Unit, Pediatric Anesthesiology and Intensive Care Unit, Children’s Hospital “G. Di Cristina”, ARNAS “Civico-Di Cristina-Benfratelli”, Palermo, ItalyPediatrics and Adolescentology Unit, Department of Internal Medicine University of Pavia and Fondazione IRCCS Policlinico San Matteo, Pavia, ItalyThe 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 obese mother, diagnosed with type IV LTEC and type III esophageal atresia (EA), in which a 1p36 deletion including the RERE gene was detected. On the second day of life, a right thoracotomy and extrapleural esophagus atresia repair were attempted. One week later, a right cervical approach was performed to separate the cervical esophagus from the trachea. Three months later, a thoracic termino-terminal anastomosis of the esophagus was performed. An anterior fundoplication was required at 8 months of age due to severe gastroesophageal reflux and failure to thrive. A causal role of 1p36 deletions including the RERE gene in the malformation is proposed. Moreover, additional parental factors must be considered. Future studies are mandatory to elucidate genomic and epigenomic susceptibility factors that underlie these congenital malformations. A multiteam approach is a crucial factor in the successful management of affected patients.http://dx.doi.org/10.1155/2018/4060527 |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Gloria Pelizzo Aurora Puglisi Maria Lapi Maria Piccione Federico Matina Martina Busè Giovanni Battista Mura Giuseppe Re Valeria Calcaterra |
spellingShingle |
Gloria Pelizzo Aurora Puglisi Maria Lapi Maria Piccione Federico Matina Martina Busè Giovanni Battista Mura Giuseppe Re Valeria Calcaterra Type IV Laryngotracheoesophageal Cleft Associated with Type III Esophageal Atresia in 1p36 Deletions Containing the RERE Gene: Is There a Causal Role for the Genetic Alteration? Case Reports in Pediatrics |
author_facet |
Gloria Pelizzo Aurora Puglisi Maria Lapi Maria Piccione Federico Matina Martina Busè Giovanni Battista Mura Giuseppe Re Valeria Calcaterra |
author_sort |
Gloria Pelizzo |
title |
Type IV Laryngotracheoesophageal Cleft Associated with Type III Esophageal Atresia in 1p36 Deletions Containing the RERE Gene: Is There a Causal Role for the Genetic Alteration? |
title_short |
Type IV Laryngotracheoesophageal Cleft Associated with Type III Esophageal Atresia in 1p36 Deletions Containing the RERE Gene: Is There a Causal Role for the Genetic Alteration? |
title_full |
Type IV Laryngotracheoesophageal Cleft Associated with Type III Esophageal Atresia in 1p36 Deletions Containing the RERE Gene: Is There a Causal Role for the Genetic Alteration? |
title_fullStr |
Type IV Laryngotracheoesophageal Cleft Associated with Type III Esophageal Atresia in 1p36 Deletions Containing the RERE Gene: Is There a Causal Role for the Genetic Alteration? |
title_full_unstemmed |
Type IV Laryngotracheoesophageal Cleft Associated with Type III Esophageal Atresia in 1p36 Deletions Containing the RERE Gene: Is There a Causal Role for the Genetic Alteration? |
title_sort |
type iv laryngotracheoesophageal cleft associated with type iii esophageal atresia in 1p36 deletions containing the rere gene: is there a causal role for the genetic alteration? |
publisher |
Hindawi Limited |
series |
Case Reports in Pediatrics |
issn |
2090-6803 2090-6811 |
publishDate |
2018-01-01 |
description |
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 obese mother, diagnosed with type IV LTEC and type III esophageal atresia (EA), in which a 1p36 deletion including the RERE gene was detected. On the second day of life, a right thoracotomy and extrapleural esophagus atresia repair were attempted. One week later, a right cervical approach was performed to separate the cervical esophagus from the trachea. Three months later, a thoracic termino-terminal anastomosis of the esophagus was performed. An anterior fundoplication was required at 8 months of age due to severe gastroesophageal reflux and failure to thrive. A causal role of 1p36 deletions including the RERE gene in the malformation is proposed. Moreover, additional parental factors must be considered. Future studies are mandatory to elucidate genomic and epigenomic susceptibility factors that underlie these congenital malformations. A multiteam approach is a crucial factor in the successful management of affected patients. |
url |
http://dx.doi.org/10.1155/2018/4060527 |
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