Case Report: Pentalogy of Cantrel with Cranioschisis and Facial Abnormality; An extremely rare Association

Abstract

Pentalogy of Cantrell is a rare multiple congenital anomalies syndrome that is characterized by 5 major defects. The defects include midline supraumbilical abdominal wall defect (omphalocele), lower sternum defect, anterior diaphragm defect, diaphragmatic pericardium defect and heart defect (ectopic cordis and intracardial defect). In extreme cases, the condition is not compatible with life. The prognosis is even worse when it is associated with other complex anomalies. The exact cause is not completely understood. It occurs sporadically in the majority of cases with variable clinical expressions, though it has been linked to some chromosomal anomalies such as Trisomy 18 and some X-linked disorders. Complete and Incomplete expressions have been reported. We hereby report a case of incomplete manifestations of Pentalogy of Cantrell with rare associations (Cranioschisis, cleft lip, and palate). The challenges encountered in making the diagnosis (both prenatally and postnaschisis, tally), as well as treatment, are hereby discussed.