Complete Pentalogy of Cantrell: A case report and a review of literature

Abstract

Pentalogy of Cantrell is a rare congenital malformation syndrome involving specific combination of ventral midline defects with ectopia cordis', as the most severe malformation. The complete form consists of five anatomical defects. We report a case of a one hour old female neonate delivered to a 27 year old primipara who presented with the complete form of the syndrome. She had surgery on the 4 th day of life, however died 36 hours 1 It is also known as Cantrell-Haller-Ravitch syndrome named after the initial authors. 2 The cardinal features of the syndrome were anterior abdominal defect (omphalocele) in association with ectopia cordis (EC) (evisceration of the heart). Toyama (1972) subsequently described the full spectrum of the Cantrell's syndrome to consist of ectopia cordis, a defect in the diaphragmatic pericardium, a deficiency of the anterior diaphragm, lower sternal defect, a midline supraumbilical abdominal wall defects, various structural congenital intracardial anomalies. 3 The precise cause of Pentalogy of Cantrell has remained elusive. One hypothesis that has enjoyed wide acceptance is that it results from a developmental failure of a segment of the lateral mesoderm at about the 14 th to 18 th days of intrauterine life, with subsequent failure in the development of the transverse septum of the diaphragm and the failure in the ventromedial migration of the paired mesodermal folds of the upper abdomen.