An aborted case suspected to CHARGE Syndrome; A rare case with cardiac, intestinal and kidney abnormalities

Abstract

Abstract Background CHARGE syndrome is a life-threatening congenital anomaly. The syndrome associations consist of coloboma, heart disease, atresia of the choanae, retarded growth and development, genital hypoplasia/genitourinary anomalies, and ear anomalies and or hearing loss. The aim of this paper is to describe and discuss a rare case of CHARGE syndrome. Case presentation During the routine dissection, atrial septal defect, overriding aorta from both ventricles, patent ductus arteriosus, duodenal anomaly, absent pancreas, right side descending and sigmoid, intestinal herniation in lesser sac, and left kidney anomaly were observed. Conclusions This rare case is of importance in re-considering the criteria of CHARGE and understanding the importance of the orchestrated morphologic driving forces of embryonic development.

Keywords

• CHARGE syndrome
• Multicystic kidney
• Atrial septal defect