Prenatal diagnosis of Cantrell's Pentalogy with an unusual complete phenotype, a case report, and a literature review.

Abstract

Cantrell's pentalogy (CP) is an orphan congenital disease resulting from embryological alterations of the mesoderm, characterized by a defect in the lower sternal portion, supraumbilical abdominal wall, anterior diaphragm as well as the diaphragmatic pericardium, and cardiac alterations. We report the case of a male newborn with a prenatal diagnosis of abdominal wall defect, in whom a class 1 or complete phenotype of Cantrell's Pentalogy was diagnosed and early measures were taken to prevent adverse outcomes related to this disease. It is known that congenital syndromic disease, such as CP, may be timely addressed with primary prevention strategies and adequate prenatal controls, also, early diagnosis will permit an effective clinical and surgical management of the patient thus leading to a positive prognosis. Finally, it has been established that in this population, proper decision-taking of therapeutic possibilities during the patient’s early years may improve their quality of life and their lifespan.