Pentalogy of Cantrell or Cantrell Syndrome: One in a million disease

Introduction: Pentalogy of Cantrell (PS) or Cantrell Sydrome (CS), first described by Cantrell in 1958, is a rare congenital anomaly characterized by defect in lower sternum, anterior abdominal wall defect, defect in anterior diaphragm, ectopia cordis and congenital heart disease. Case Report: A 12 hours female neonate born to full term primigravida was reffered to us with her heart lying outside the chest and an omphalocele as well. Baby had complete thoracic ectopia cordis, midline anterior thoraco-abdominal wall defect through with liver was protruding which was covered by a membrane. Sternum lower to ectopia cordis was not palpable.Echocardiography showed ASD, VSD ,pulmonary and infundibular stenosis. Child was refered to pediatric cardiac surgeon but died after 36 hours of life. Discussion: Pentalogy of Cantrell (PC) is a rare congential malformation with great variation in expression. Etiology is unkown but defective development of lateral mesoderm with poor differentiation, proliferation and migration during 14-18 days of embryonic life is suggested to be responsible for this anomaly. Other organ system involvement like cleft lip, cleft palate, craniorachischisis, gall bladder agenesis, renal agenesis, adrenal hypoplasia, bladder extrophy, undescended testes, inguinal hernia, polysplenia, club feet, absent tibia, absent radius and hypodactyly have also been reported in literatue. Three types of PC has been described, Class I in which all the five defects are present. Class II has four defects with intracardiac and abdominal defects as essential components. Class III is incomplete disease expression having combination of various defects with sternal defect as an essential component. Early diagnosis with antenatal ultrasound is possible. Ectopia cordis can be partial or complete and its location may be cervical, thoracic, thoraco-abdominal and abdominal. Management of PC is challenging and multidisciplinary. Aim of management is to have a complete survey of other congenital anomalies and closure of defects as early as possible. Overall prognosis is not good. Prognosis depends on type of PC, position of ectopia cordis and intracaridac defects. Conclusion: Pentalogy of Cantrell is a rare condition with high morbidity and mortality. antenatal ultrasound is helpful in early diagnosis. Child must be delivered in a tertiary care hospital where all the facilities are available. Early intervention to cover the exposed organs is necessary to avoid organ injury