摘要 Cornelia de Lange(CdLS)综合征是一种罕见的累及多系统的先天性疾病,其主要特征包括颅面部畸形、肢体缺陷、智力发育障碍、行为异常及其他内脏器官受累。本文总结1例CdLS患儿临床表现,报道其新发基因突变结果,回顾分析国内31例CdLS患者临床特点,并对该疾病目前的临床研究和分子生物学研究进行文献复习,旨在提高临床医生对本病的认识,做到及时诊治。
1 Ireland M,Donnai D Burn J.Brachmann-de Lange syndrome.Delineation of the clinical phenotype.Am J Med Genet,1993,47:959-964. 2 Kline AD,Krantz ID,Sommer A,et al.Cornelia de Lange syndrome:clinical review,diagnostic and scoring systems,and anticipatory guidance.Am J Med Genet A,2007,143A:1287-1296. 3 Schrier SA,Sherer I,Deardorff MA,et al.Causes of death and autopsy findings in a large study cohort of individuals with Cornelia de Lange syndrome and review of the literature.Am J Med Genet A,2011,155A:3007-3024. 4 Jackson L,Kline AD,Barr MA,et al.de Lange syndrome:a clinical review of 310 individuals.Am J Med Genet,1993,47:940-946. 5 Richards S,Aziz N,Bale S,et al.Standards and guidelines for the interpretation of sequence variants:a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.Genet Med,2015,17:405-424. 6 郭若兰,李巍.采用全外显子组高通量测序诊断Cornelia de Lange综合征一例.中国优生与遗传杂志,2018,26:26-28. 7 赵云静,麻宏伟.2例Cornelia de Lange综合征患儿NIPBL基因突变研究.中国当代儿科杂志,2018,20:387-391. 8 文丹丹,芦伟,王敏.新生儿德朗热综合征1例及基因分析.巴楚医学,2018,1:96-97. 9 李群,王剑,王秀敏.德朗热综合征的分子机制及诊治研究进展.医学综述,2019,25:1614-1619. 10 龚春竹,程昕然,鄢力,等.2例Cornelia de Lange综合征病例报告并NIPBL基因突变研究.重庆医科大学学报,2019,44:829-832. 11 谢惠源.De Lange综合征1例.中国实用儿科杂志,2012,27:715-716. 12 杨保旺,徐菱阳,王爱华.德朗综合征1例报告及基因分析.临床儿科杂志,2017,35:207-209. 13 高延,洪琦.Cornelia de Lange综合症1例报告.中国儿童保健杂志,2011,19:679-680. 14 祁建勤,张红红,凌昱,等.Cornelia De Lange综合征三例.中华临床医师杂志,2013,7:5187-5188. 15 王院方.De Lange综合征3例分析.中国误诊学杂志,2009,9:8947. 16 邢雪莎,刘双,黎芳,等.Cornelia de Lange综合征致病基因突变分析:第十四次全国医学遗传学学术会议,中国广西壮族自治区南宁,2015. 17 王晨,孟岩.de Lange综合征一例.中国新生儿科杂志,2006,1:48. 18 陈钧亚,项如莲.De Lange综合征一例报告.温州医学院学报,1999,4:297. 19 陈志鸿,董凯,韩延龙.De Lange氏综合征1例.牡丹江医学院学报,2002,6:48-49. 20 李星,包新华,吴希如.Cornelia De Lange综合征一例.中国优生优育,1996,2:80. 21 徐吉成.De Lange综合征1例报告.江苏医药,1997,7:520. 22 彭坚,赵秀玲,罗分平.De Lange综合征1例报告.中国优生与遗传杂志,1997,5:87. 23 张洪敏,李毅,曾立芬.De Lange氏综合征一例报告.遗传与疾病,1987,2:80-131. 24 石如娴,于静.Cornelia de Lange综合征1例.实用儿科杂志,1988,5:56. 25 于晓红,张虎翼,顾镜月,等.新生儿德朗热综合征一例.中国新生儿科杂志,2011,26:419. 26 姚坤宇,徐巍,王利红,等.德朗热综合征1例.中国儿童保健杂志,2019,27:115-116. 27 梅瑾,王敏,王小华,等.一例Cornelia de Lange综合征患儿的NIPBL基因突变分析.中华医学遗传学杂志,2018,35:557-560. 28 邢蓬蕊,潘金勇,张惠荣.Shh与Wnt5a基因在Cornelia De Lange综合征中的表达及意义.中国当代儿科杂志,2019,21:485-490. 29 李硕,朱惠娟,潘慧.Cornelia de Lange综合征.中华医学杂志,2018,98:2947-2949. 30 王院方.De Lange综合征3例分析.中国误诊学杂志,2009,9:8947. 31 苗业权,朱越跃,张其刚,等.两例Cornelia de Lange综合征患儿的临床表现与基因突变分析.中华医学遗传学杂志,2018,35:493-497. 32 黑明燕,陈佳,邬玲仟,等.Cornelia de Lange综合征病例报告并17例文献复习.中华儿科杂志,2012,50:606-611. 33 钟秋连.运用细胞和分子遗传学方法对Cornelia de Lange综合征患者进行遗传诊断.中南大学,2011. 34 俎丽娇.Cornelia de Lange综合征1例并文献复习.河北医科大学,2018. 35 Kline AD,Moss JF,Selicorni A,et al.Diagnosis and management of Cornelia de Lange syndrome:first international consensus statement.Nat Rev Genet,2018,19:649-666. 36 Pie J,Puisac B,Hernandez-Marcos M,et al.Special cases in Cornelia de Lange syndrome:The Spanish experience.Am J Med Genet C Semin Med Genet,2016,172:198-205. 37 Watrin E,Kaiser FJ,Wendt K S.Gene regulation and chromatin organization:relevance of cohesin mutations to human disease.Curr Opin Genet Dev,2016,37:59-66. 38 Chatfield KC,Schrier SA,Li J,et al.Congenital heart disease in Cornelia de Lange syndrome:phenotype and genotype analysis.Am J Med Genet A,2012,158A:2499-2505. 39 Boyle MI,Jespersgaard C,Nazaryan L,et al.Deletion of 11q12.3-11q13.1 in a patient with intellectual disability and childhood facial features resembling Cornelia de Lange syndrome.Gene,2015,572:130-134. 40 Zambrelli E,Fossati C,Turner K,et al.Sleep disorders in Cornelia de Lange syndrome.Am J Med Genet C Semin Med Genet,2016,172:214-221. 41 Mulder PA,Huisman SA,Hennekam RC,et al.Behaviour in Cornelia de Lange syndrome:a systematic review.Dev Med Child Neurol,2017,59:361-366. 42 Kline AD,Moss JF,Selicorni A,et al.Diagnosis and management of Cornelia de Lange syndrome:first international consensus statement.Nat Rev Genet,2018,19:649-666. 43 de Graaf M,Kant SG,Wit JM,et al.Successful Growth Hormone Therapy in Cornelia de Lange Syndrome.J Clin Res Pediatr Endocrinol,2017,9:366-370. 44 Dowsett L,Porras AR,Kruszka P,et al.Cornelia de Lange syndrome in diverse populations.Am J Med Genet A,2019,179:150-158.