Pentalogy of Cantrell: A Case Report with Pathologic Findings

Abstract

We present the case of a 28-h-old female infant born at 37 weeks of gestation with a rare congenital malformation consisting of a pentad of findings: ectopia cordis, a midline supraumbilical wall defect, a defect of the lower sternum, absent pericardium, and an anterior diaphragmatic defect. This constellation of defects is known as the pentalogy of Cantrell. Additional autopsy findings included a bilateral cleft lip and palate, bilateral pulmonary hypoplasia, an atrial septal defect, and a patent ductus arteriosus. We present this case because of its rarity and discuss the pathologic findings.

Pentalogy of Cantrell: Embryofetoscopic Diagnosis

“…Pentalogy of Cantrell is a rare syndrome with an estimated incidence of 5.5 per 1 million live births [10]. It is described as a midline supraumbilical abdominal wall defect with deficiency of the anterior diaphragm, a defect of the lower sternum and in the diaphragmatic pericardium, and various congenital intracardiac abnormalities [11].…”

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

“…1 Various other anomalies reported by other authors which were not present in this current case were craniofacial and other CNS anomalies such as cleft lip/palate, encephalocele, hygrocephalus and craniorachischisis. [12][13][14] Limb defects such as clubfoot, absent tibia or radius and hypodactyly were also absent. 15,16 Toyama MW (1972) described this rare syndrome in 3 classes: Class 1: Exact diagnosis with all five defects present.…”

Antenatal Diagnosis Of A Case Of Pentalogy Of Cantrell Associated With Phocomelia

“…Cantrell Pentalogy was diagnosed in monozygotic twins 8 and was associated with trisomy18 9 . However, the association with the chromosomal anomalies was rare and in most of the cases the karyotype examinations were normal 10,11 .…”