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A Network of Anomalies Prompting VACTERL Workup in a Trisomy 21 Newborn

VACTERL (vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula, renal anomalies, and limb abnormalities) association is a condition defined by having at least three of the following congenital malformations: vertebral defects, anal atresia, cardiac defects, tracheoesophageal fi...

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Detalles Bibliográficos
Autores principales: Reinicke, Trenton, Costantino, Christina L, Anderson, Danyon J, Tran, Jacqueline, Griggs, Cornelia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8846374/
https://www.ncbi.nlm.nih.gov/pubmed/35186552
http://dx.doi.org/10.7759/cureus.21290
Descripción
Sumario:VACTERL (vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula, renal anomalies, and limb abnormalities) association is a condition defined by having at least three of the following congenital malformations: vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula, renal anomalies, and limb abnormalities. While diagnosing the VACTERL association is rare, the conditions that make up the VACTERL core-component features among other congenital abnormalities are even more unique. We present a case of a 34-week-old premature infant with trisomy 21 in addition to esophageal atresia, tracheoesophageal fistula, laryngeal cleft, vascular ring, Hirschsprung’s disease, atrioventricular canal defect, ventricular septal defect, and other related conditions diagnosed at birth. To our knowledge, this case represents the first of its kind in relation to the constellation of anomalies diagnosed in one individual at birth of which may or may not be related to Down syndrome, and the associated interventions necessary to continue postnatal living.