An autopsy case of multiple congenital malformations was studied. A large posterolateral diaphragmatic defect(6×4cm) with a herniated left lobe of the liver and a herniated half of the stomach without hernia sac was noticed, and also marked hypoplasia of both lungs and a midline displacement of the heart were noticed in the thoracic cavity. A classical complete transposition of the great arteries of the heart and the presense of patent foramen ovale and ductus arteriosus were observed. An imperforated anus with rectovesical fistula, the right renal agenesis and the left renal dysplasia were observed. Absence of the uterus, oviducts and vagina suggesting the congenital absence of Mullerian duct were observed. Malformations of the upper extremities-right amelia, left ulnar agenesia, absence of left carpal bones with oligodactyly-were also observed.