Rojas BIA, Pérez ÁI, Hernández GG

Language: Spanish
References: 19
Page:
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ABSTRACT

Introduction: Pentalogy of Cantrell is a rare spectrum of congenital malformations consisting of five defects: defect of the midline of the supraumbilical abdominal wall, defect of the lower section of the sternum, agenesis of the anterior section of the diaphragm with absence of the diaphragmatic section of the pericardium, and one or several intracardiac congenital defects. However, the distinctive signs of the syndrome are omphalocele associated with ectopia cordis. It is a disorder of low general frequency, with an estimated incidence of 5.5-7.9 per million live births. In Cuba, ever since the Cuban Registry of Congenital Malformations was started in 1985, only 10 cases have been recorded and only two have been described in the literature.
Objective: Describe the clinical characteristics of a case with one of the incomplete forms of pentalogy of Cantrell.
Case presentation: A 39-year-old female patient attends genetics consultation at the Provincial Genetics Center of Mayabeque as part of the follow-up established by the methodology contained in the Program of Diagnosis, Management and Prevention of Genetic Diseases and Congenital Defects. After performing the tests indicated in the methodology, the fetus is diagnosed with one of the incomplete forms of pentalogy of Cantrell (ectopia cordis, gastroschisis and omphalocele).
Conclusions: It was considered appropriate to disseminate information about this case given the low frequency of the disorder and the fact that it was the first one diagnosed in the province of Mayabeque.

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