1Surachart Chaiwiriyakul M.D., 1Lerluck Sakdapreecha M.D., 2Junya Jirapradittha M.D., 1Churairat Kularbkaew M.D., 1Chawalit Pairojkul M.D., 1Yaovalux Chamgramol Ph.D. 1Department of Pathology and 2Department of Pediatrics, Faculty of Medicine, Khon Kaen University, Khon Kaen, Thailand Correspondence: Yaovalux Chamgramol, Ph.D. Department of Pathology, Faculty of Medicine, Khon Kaen University, Khon Kaen, 40002, Thailand. Tel. +66-043-363691, Fax. +66-043-348388, E-mail: email@example.com Received : 30 April 2014 ; Accepted : 28 May 2014.
Background : Pentalogy of Cantrell is a rare congenital syndrome characterized by defects involving the supra-umbilical abdominal wall, lower sternum, anterior diaphragm, pericardium, and the intra-cardiac anomalies. The ensuing congenital heart disease is a source of major morbidity. The full spectrum of the syndrome is rare while incomplete expression of the syndrome and its variants are well-recognized. Case presentation : A 6-day-old male neonate with an incomplete form of Cantrell pentad was reported. At 22 weeks’ gestation, prenatal sonography indicated omphalocele and ventricular septal defect (VSD) with a double outlet right ventricle (DORV). The patient was referred to Khon Kaen University Hospital (Srinagarind Hospital) in Northeast Thailand. Amniocentesis revealed 46,XY. He was born full-term by normal delivery. His congenital defects were confirmed; however, he died 2 days after surgical correction of the abdominal wall and diaphragm defects. The distinct findings relevant to pentad were noted.