Chinese Journal of Child Health Care ›› 2022, Vol. 30 ›› Issue (2): 229-232.DOI: 10.11852/zgetbjzz2021-0163
• Case Report • Previous Articles
Received:2021-01-28
Revised:2021-04-02
Online:2022-02-10
Published:2022-02-25
宿潇潇1,2, 彭慧芳3, 姜宏卫3, 娄丹2, 姜志红2
通讯作者:
姜志红,E-mail:3105515100@qq.com
作者简介:宿潇潇(1992-),女,河南人,住院医师,硕士学位,主要研究方向为儿童内分泌、遗传代谢性疾病。
基金资助:CLC Number:
宿潇潇, 彭慧芳, 姜宏卫, 娄丹, 姜志红. 德朗热综合征1例并中国109例文献复习[J]. 中国儿童保健杂志, 2022, 30(2): 229-232.
| [1] Kline AD, Moss JF, Selicorni A, et al. Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement[J]. Nat Rev Genet, 2018,19(10):649-666. [2] 周平, 朱琳, 范琼丽, 等. Cornelia de Lange综合征首个国际共识的解读[J]. 中国当代儿科杂志, 2020,22(8):815-820. [3] Mannini L, Cucco F, Quarantotti V, et al. Mutation spectrum and genotype-phenotype correlation in Cornelia de Lange Syndrome[J]. Hum Mutat, 2013,34(12):1589-1596. [4] Li S, Miao H, Yang H, et al. A report of 2 cases of Cornelia de Lange syndrome (CdLS) and an analysis of clinical and genetic characteristics in a Chinese CdLS cohort[J]. Mol Genet Genomic Med, 2020,8(4):e1066. [5] Liu C, Li X, Cui J, et al. Analysis of clinical and genetic characteristics in 10 Chinese individuals with Cornelia de Lange syndrome and literature review[J]. Mol Genet Genomic Med, 2020,8(10):e1471. [6] Qun L, Guoying C, Lei Y, et al. Clinical and molecular analysis in a cohort of Chinese children with Cornelia de Lange syndrome.[J]. Sci Rep, 2020,10(1):21224. [7] Fecarotta CM, Kim M, Wasserman BN. Refractive surgery in children[J]. Curr Opin Ophthalmol, 2010,21(5):350-355. [8] de Graaf Michael, Kant Sarina G, Maarten WJ, et al. Successful growth hormone therapy in Cornelia de Lange syndrome[J]. J Clin Res Pediatr Endocrinol, 2017,9(4):366-370. [9] 练芮含, 易彬, 朱生东, 等. SMC1A基因变异所致Cornelia de Lange综合征一例[J].中华儿科杂志, 2020,58(1): 60-62. [10] 李群. 儿童德朗热综合征的临床研究[D].上海:上海交通大学, 2019. [11] 王晓磊, 雷燕喆, 张丽. Cornelia de Lange综合征一例[J]. 中华新生儿科杂志, 2019,34(4):302-303. [12] 马健, 张琼琼, 张开慧, 等. 基因变异引起新生儿Cornelia de Lange综合征5型一例[J]. 中华医学遗传学杂志, 2019,36(7):720-723. [13] 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[D].长沙:中南大学, 2011. [14] Huiaman SA, Redeker EJW, Maas SM, et al. High rate of mosaicism in individuals with Cornelia de Lange syndrome[J].J Med Genet, 2013,50(5):339-344. [15] Levin AV,Seidman DJ,Nelson LB,et al. Ophthalmologic findings in the Cornelia de Lange syndrome[J]. Ophthalmic Genet, 2019,40(1):1-6. [16] 钱彦卿, 彭国印, 邬向军, 等. 德朗综合征产前超声特征分析[J]. 中国超声医学杂志, 2020,36(7): 643-646. [17] Kline AD, Barr M, Jackson LG. Growth manifestations in the Brachmann-de Lange syndrome.[J]. Am J Med Genet, 1993,47(7):1042-1049. [18] Dowsett L, Porras AR, Kruszka P, et al. Cornelia de Lange syndrome in diverse populations[J].Am J Med Genet A, 2019, 179(2):150-158. |
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