An 8-month-old, female infant with partial DiGeorge syndrome was found to be associated with cardiovascular malformation. She had a characteristic face of the syndrome, manifesting hypocalcemic tetany and congenital heart disease. The autopsy revealed tetralogy of Fallot and abnormal branches of the pulmonary artery, which have never been observed among patients with DiGeorge syndrome ever reported, and led to death in the present case. Microscopic study disclosed thymic aplasia with partial absence of the parathyroid gland, and a decrease in number of small lymphocytes of the thymus-dependent areas in lymphoid tissue.
