A Scoping Review of Pentalogy of Cantrell: Insights From a Case With IC2 Hypomethylation on Chromosome 11p15 (Beckwith-Wiedemann Syndrome Locus).

Pentalogy of Cantrell (POC) is a rare constellation of congenital differences characterized by a midline supraumbilical abdominal wall defect, lower sternal defect, deficiency of the anterior diaphragm, defect of the diaphragmatic pericardium, and congenital intracardiac anomalies. While its embryologic origins are presumed to stem from early developmental disruption, the underlying etiology remains poorly understood. To systematically map and characterize reported cases of pentalogy of Cantrell in the literature, with emphasis on clinical features, associated anomalies, genetic findings, and proposed developmental mechanisms. A scoping review of published cases of pentalogy of Cantrell was conducted using PubMed, with additional cases identified through reference lists of included articles. Eligible studies included published case reports and case series describing complete or incomplete pentalogy of Cantrell. Data were charted on study characteristics, phenotypic features, associated anomalies, genetic findings, and relevant perinatal and familial factors. In some instances, cases cited within secondary reports could not be independently verified due to lack of access to the original publications. A total of 242 cases of complete pentalogy of Cantrell and 441 cases of incomplete presentations were identified. Out of the 683 total cases, 91 cases included some form of genetic finding. Reported cases demonstrate substantial phenotypic variability, with frequent intracardiac anomalies and variable extracardiac findings. Classification was often limited by incomplete reporting, inconsistent diagnostic criteria, and restricted clinical detail. Genetic evaluations were inconsistently performed and no unifying etiology has been identified. In our novel case, features of POC were identified in association with IC2 hypomethylation on chromosome 11p15, consistent with Beckwith-Wiedemann syndrome. To our knowledge, this represents the first reported case of this association and suggests a potential epigenetic contribution. This scoping review highlights the clinical heterogeneity of POC and the limited understanding of its underlying pathogenesis. The presence of epigenetic alterations in our included case suggests that imprinting disturbances may contribute to a subset of presentations, thus warranting further investigation.