A very rare syndrome of congenital defects, comprising an abdominal wall defect, diaphragmatic hernia, defect of the diaphragmatic part of the pericardium, heart malformations, ectopia cordis and sternal defects is known as pentalogy of Cantrell. It develops approximately from the 3rd to the 14th week of gestation, and is associated with a poor prognosis. Fewer than 200 cases, presenting with a varied severity of the malformations, have been noted worldwide. In this study, we report a case of a female newborn diagnosed with pentalogy of Cantrell. The first defect identified during foetal life was omphalocele. After birth, the infant was intubated due to severe cardiorespiratory failure. Chest radiography showed opacity of the right lung and displacement of the heart to the right. On further studies, a diagnosis of tetralogy of Fallot and a sternal defect as well as a suspicion of a lack of the central portion of the thoracic diaphragm were also established. In the second day of life, surgery restoring the continuity of the diaphragm and closing the rings of hernia was performed. After the procedure, the baby’s condition was critical, but stabilised over the next days of treatment. Currently, the child shows normal psychomotor development and remains under constant care of specialists. Infants with pentalogy of Cantrell require expensive and complex multidisciplinary, medical care for many years.