DiGeorge综合征是第三和第四咽囊及其附属结构的先天发育不足.其结果为胸腺发育不全所引起的细胞免疫缺陷,甲状旁腺发育不全的面部异常以及主动脉弓和其它心血管结构的畸形.多数患者在生后一个月内死亡.作者报告一例患有DiGeorge综合征的长期存活的16岁男孩,并伴有自身免疫性甲状腺病(Grave病). DiGeorge syndrome is the congenital hypoplasia of the third and fourth pharyngeal sacs and their accessory structures.The result is cellular immunodeficiency caused by thymus hypoplasia, facial abnormalities of hypoparathyroidism, and deformities of the aortic arch and other cardiovascular structures Most patients die within one month after birth, and the authors report a long-term 16-year-old boy with DiGeorge syndrome with autoimmune thyroid disease (Grave’s disease).