International Journal of Science and Research (IJSR)

International Journal of Science and Research (IJSR)
Call for Papers | Fully Refereed | Open Access | Double Blind Peer Reviewed

ISSN: 2319-7064


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Research Paper | Pediatrics | Albania | Volume 7 Issue 7, July 2018


Congenital Gastrointestinal Anomalies and their Associations to Genetic Disorders

Aurel Vula | Alba Dokaj [2]


Abstract: Congenital anomalies of the digestive tract are an important part of congenital anomalies as they constitute one of the main causes of mortality in children. The aim of this study was to evaluate the most common digestive anomaly associated with genetic disorders. We also sought to ascertain the most frequent genetic disorder in our patients and its connection to mortality, the average age of diagnosis, prenatal diagnosis, gestacional age and associations with other organ anomalies. The study was conducted in two phases and includes a total of 273 children diagnosed with Congenital anomalies of the digestive tract, presented at the Pediatric Intensive Care Unit in UHC Mother Teresa. The first phase, retrospective, includes 137 patients during the period January 2006 December 2010. The second phase of the study, prospective, includes 136 patients from January 2011 - March 2015. The most frequent digestive anomaly in patients with genetic disorders was Anal atresia (39.40 %), followed by Omphalocele and Intestinal atresia (15.10 %). Down syndrome was the most frequent genetic disorder, 9 cases (3.30 %). It is important to identify cases associated to genetic disordes because they condition patients managment and prognosis. Anomalies that are often associated with other defects have shown early clinical symptoms and require more time and effort for correction.


Keywords: congenital gastrointestinal anomalies, newborn babies, genetic disorders, age of diagnosis, associated organ anomalies


Edition: Volume 7 Issue 7, July 2018,


Pages: 30 - 32


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