DiGeorge综合征是一种细胞免疫缺陷病,因胸腺和甲状腺发育不全或缺如,故又称先天性胸腺发育不全,在临床上比较少见,目前国内外报道的病例不多,临床医师对该病认识不足或不能鉴别[1]。为了提高儿科医师对该病的认识,现报道我院收治的1例DiGeorge综合征患儿,并结合文献复习进行分析。 DiGeorge syndrome is a cellular immunodeficiency disease due to thymus and thyroid hypoplasia or absence, it is also known as congenital thymus hypoplasia, is relatively rare in clinical practice, at home and abroad reported few cases, the clinician of the disease Insufficient recognition or identification [1]. In order to improve pediatricians awareness of the disease, is reported in our hospital in 1 case of DiGeorge syndrome in children, combined with the literature review.