DiGeorge综合征

DiGeorge综合征表现形式多变，其特征可与其他综合征重叠。

对染色体22q缺失的评估将多数DiGeorge综合征的患儿同其他非综合征的特殊异常区分开来。

对不伴其他异常的精神分裂症患儿进行常规筛查是无益的。

用异维甲酸治疗婴儿痤疮可导致视黄酸胚胎病，表现出与DiGeorge综合征相似的特征。[64]Lammer EJ, Chen DT, Hoar RM, et al. Retinoic acid embryopathy. N Engl J Med. 1985 Oct 3;313(14):837-411.http://www.ncbi.nlm.nih.gov/pubmed/3162101?tool=bestpractice.com[65]Zhang L, Zhong T, Wang Y, et al. TBX1, a DiGeorge syndrome candidate gene, is inhibited by retinoic acid. Int J Dev Biol. 2006;50:55-61.http://www.ncbi.nlm.nih.gov/pubmed/16323078?tool=bestpractice.com[66]Vermot J, Niederreither K, Garnier JM, et al. Decreased embryonic retinoic acid synthesis results in a DiGeorge syndrome phenotype in newborn mice. Proc Natl Acad Sci U S A. 2003;100:1763-1768.http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pubmed&pubmedid=12563036http://www.ncbi.nlm.nih.gov/pubmed/12563036?tool=bestpractice.com[67]Roberts C, Ivins SM, James CT, et al. Retinoic acid down-regulates Tbx1 expression in vivo and in vitro. Dev Dyn. 2005;232:928-938.http://onlinelibrary.wiley.com/doi/10.1002/dvdy.20268/fullhttp://www.ncbi.nlm.nih.gov/pubmed/15736167?tool=bestpractice.com异维甲酸用药史有助于鉴别DiGeorge综合征，且小耳畸形、无耳畸形、小颌畸形及自然流产较22qDS更多见。[64]Lammer EJ, Chen DT, Hoar RM, et al. Retinoic acid embryopathy. N Engl J Med. 1985 Oct 3;313(14):837-411.http://www.ncbi.nlm.nih.gov/pubmed/3162101?tool=bestpractice.com

通常，这类患儿无染色体22q缺失。

有眼缺损、心脏缺陷、后鼻孔闭锁、生长和/或发育迟缓、生殖器和/或泌尿器畸形、耳畸形和耳聋（CHARGE综合征）的婴幼儿部分特征与DiGeorge综合征重叠。有些CHARGE综合征患儿已被发现有染色体22q缺失。[68]de Lonlay-Debeney P, Cormier-Daire V, Amiel J, et al. Features of DiGeorge syndrome and CHARGE association in five patients. J Med Genet. 1997;34:986-989.http://www.pubmedcentral.nih.gov/picrender.fcgi?artid=1051148&blobtype=pdfhttp://www.ncbi.nlm.nih.gov/pubmed/9429139?tool=bestpractice.com[69]Markert ML, Devlin BH, Alexieff MJ, et al. Review of 54 patients with complete DiGeorge anomaly enrolled in protocols for thymus transplantation: outcome of 44 consecutive transplants. Blood. 2007;109:4539-4547.http://www.bloodjournal.org/content/109/10/4539.long?sso-checked=truehttp://www.ncbi.nlm.nih.gov/pubmed/17284531?tool=bestpractice.com[70]Janda A, Sedlacek P, Mejstrikova E, et al. Unrelated partially matched lymphocyte infusions in a patient with complete DiGeorge/CHARGE syndrome. Pediatr Transplant. 2007;11:441-447.http://www.ncbi.nlm.nih.gov/pubmed/17493228?tool=bestpractice.com[71]Gennery AR, Slatter MA, Rice J, et al. Mutations in CHD7 in patients with CHARGE syndrome cause T-B + natural killer cell + severe combined immune deficiency and may cause Omenn-like syndrome. Clin Exp Immunol. 2008;153:75-80.http://www.ncbi.nlm.nih.gov/pubmed/18505430?tool=bestpractice.com[72]Theodoropoulos DS. Immune deficiency in CHARGE association. Clin Med Res. 2003;1:43-48.http://www.clinmedres.org/cgi/content/full/1/1/43http://www.ncbi.nlm.nih.gov/pubmed/15931284?tool=bestpractice.com[73]Lee KD, Okazaki T, Kato Y, et al. Esophageal atresia and tracheo-esophageal fistula associated with coarctation of the aorta, CHARGE association, and DiGeorge syndrome: a case report and literature review. Pediatr Surg Int. 2008;24:1153-1156.http://www.ncbi.nlm.nih.gov/pubmed/18696080?tool=bestpractice.com

某些CHARG综合征患儿有染色体22q缺失，而其他患儿有CHD7基因突变。[71]Gennery AR, Slatter MA, Rice J, et al. Mutations in CHD7 in patients with CHARGE syndrome cause T-B + natural killer cell + severe combined immune deficiency and may cause Omenn-like syndrome. Clin Exp Immunol. 2008;153:75-80.http://www.ncbi.nlm.nih.gov/pubmed/18505430?tool=bestpractice.comCHARGE综合征婴幼儿应检测T细胞计数以除外免疫缺陷。