Pentology of Cantrell: a rare case report with review of literature

摘要

Pentology of Cantrell a rare congenital disorder of unknown etiology consists of pentad of: defect in the diaphragm, abdominal wall defect, deficiency of the pericardium and intracardiac defects. The hallmark diagnostic findings being ectopia cordis and omphalocoele. The exact pathogenesis is not clear, and the prognosis of this lethal condition depends on the severity of anterior abdominal wall defect and associated cardiac anamoly. Antenatal ultrasonography is a reliable tool of diagnosis and allow for termination of pregnancy if done before 20weeks of pregnancy. First described by Cantrell in 1958, very few cases have been reported till now in the literature. Authors describe here a case of a neonate delivered at 32weeks of gestation weighing 2.3kg at their hospital with typical features of Cantrells’ Pentology associated with a rare interesting finding of absent external genitalia and presence of lumbar meningocoele.