Prenatal Diagnosis of an Unusual Phenotype of Cantrell's Pentalogy: Case Report, and Literature Review

Document Type : Case Report


1 Faculty of Medicine, University of La Sabana, Bogota, Colombia

2 Medical Genetics Unit, Metropolitan Polyclinic, Caracas, Venezuela


Background: Cantrell's pentalogy (CP) is a rare congenital disease caused by morphological changes in the mesoderm. Defects of the lower sternum with ectopia cordis, midline supraumbilical abdominal wall, anterior diaphragm, diaphragmatic pericardium, and cardiac alterations are the related symptoms.
Case report: The case report is a newborn boy with a prenatal diagnosis of abdominal wall defect caused by pentalogy of Cantrell class 1 and initial measures were taken to prevent adverse outcomes.  Congenital syndromic disease, such as CP, is likely to be treated with early prevention and adequate prenatal controls. Also, early diagnosis facilitates effective clinical and surgical management and thus leads to a positive prognosis.
Conclusion: Finally, it has been established that proper decision-making about therapeutic possibilities during the early years may improve the quality of life and longevity in this population.


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