索引超出了数组界限。 文章摘要
|本期目录/Table of Contents|

[1]刘威,陈会文.Williams综合征诊治进展[J].国际心血管病杂志,2021,04:219-222.
点击复制

Williams综合征诊治进展(PDF)

《国际心血管病杂志》[ISSN:1006-6977/CN:61-1281/TN]

期数:
2021年04期
页码:
219-222
栏目:
综述
出版日期:
2021-08-15

文章信息/Info

Title:
-
作者:
刘威; 陈会文
200127 上海交通大学医学院附属上海儿童医学中心心胸外科
Author(s):
-
关键词:
Williams综合征;  心血管;  神经;  儿童
Keywords:
-
分类号:
-
DOI:
10.3969/j.issn.1673-6583.2021.04.008
文献标识码:
-
摘要:
Williams综合征是一种少见的伴有心血管畸形及神经发育异常的染色体疾病。该病高危因素较多,临床表现多样,早期发现和早期治疗是关键。该文介绍Williams综合征的遗传特性、产前诊断、产后诊断、相关疾病及成人期表现。
Abstract:
-

参考文献/References

[1] 黄琴蓉, 肖农, 陈玉霞, 等. 儿童Williams-Beuren综合征九例临床分析[J]. 中国全科医学, 2018, 21(18):2238-2241.
[2] Gregory MD, Mervis CB, Elliott ML, et al. Williams syndrome hemideletion and LIMK1 variation both affect dorsal stream functional connectivity[J]. Brain, 2019, 142(12):3963-3974.
[3] Ramírez-Velazco A, Aguayo-Orozco T, Figuera L, et al. Williams-Beuren syndrome in Mexican patients confirmed by FISH and assessed by aCGH[J]. J Genet, 2019, 98(2):34.
[4] Yuan M, Deng L, Yang Y, et al. Intrauterine phenotype features of fetuses with Williams-Beuren syndrome and literature review[J]. Ann Hum Genet, 2020, 84(2):169-176.
[5] Kruszka P, Porras AR, De Souza DH, et al. Williams-Beuren syndrome in diverse populations[J]. Am J Med Genet A, 2018, 176(5):1128-1136.
[6] Ji C, Yao D, Li MY, et al. A study on facial features of children with Williams syndrome in China based on three-dimensional anthropometric measurement technology[J]. Am J Med Genet A, 2020, 182(9):2102-2109.
[7] Xia Y, Huang S, Wu Y, et al. Clinical application of chromosomal microarray analysis for the diagnosis of Williams-Beuren syndrome in Chinese Han patients[J]. Mol Genet Genomic Med, 2019, 7(2):e00517.
[8] Opoka-Winiarska V, Tomaszek MB, Sobiesiak A, et al. The importance of FDG PET/CT in the diagnostic process of the middle aortic syndrome in a 15-year-old boy patient with suspected systemic vasculitis and final diagnosis of Williams-Beuren syndrome[J]. Rheumatol Int, 2020, 40(8):1309-1316.
[9] Furusawa E, Esposito C, Honjo RS, et al. Diagnosis and management of systemic hypertension due to renovascular and aortic stenosis in patients with Williams-Beuren syndrome[J]. Rev Assoc Med Bras, 2018, 64(8):723-728.
[10] Cha SG, Song MK, Lee SY, et al. Long-term cardiovascular outcome of Williams syndrome[J]. Congenit Heart Dis, 2019, 14(5):684-690.
[11] Kassai B, Bouyé P, Gilbert-Dussardier B, et al. Minoxidil versus placebo in the treatment of arterial wall hypertrophy in children with Williams Beuren Syndrome: a randomized controlled trial[J]. BMC Pediatr, 2019, 19(1):170.
[12] Abu-Sultaneh S, Gondim MJ, Alexy RD, et al. Sudden cardiac death associated with cardiac catheterization in Williams syndrome: a case report and review of literature[J]. Cardiol Young, 2019:1-5.
[13] Brown ML, Nasr VG, Toohey R, et al. Williams syndrome and anesthesia for non-cardiac surgery: high risk can be mitigated with appropriate planning[J]. Pediatr Cardiol, 2018, 39(6):1123-1128.
[14] Sauna-Aho O, Bjelogrlic-Laakso N, Sirén A, et al. Cognition in adults with Williams syndrome—a 20-year follow-up study[J]. Mol Genet Genomic Med, 2019, 7(6):e695.
[15] Barak B, Zhang Z, Liu Y, et al. Neuronal deletion of Gtf2i, associated with Williams syndrome, causes behavioral and myelin alterations rescuable by a remyelinating drug[J]. Nat Neurosci, 2019, 22(5):700-708.
[16] Codina-Sola M, Costa-Roger M, Pérez-García D, et al. Genetic factors contributing to autism spectrum disorder in Williams-Beuren syndrome[J]. J Med Genet, 2019, 56(12):801-808.
[17] Klein-Tasman BP, Van Der Fluit F, Mervis CB. Autism spectrum symptomatology in children with williams syndrome who have phrase speech or fluent language[J]. J Autism Dev Disord, 2018, 48(9):3037-3050.
[18] Van HJ, Ashworth M, Palikara O. Parental views on special educational needs provision: cross-syndrome comparisons in Williams Syndrome, Down Syndrome, and Autism Spectrum Disorders[J]. Res Dev Disabil, 2018, 80:102-111.
[19] Levy-Shraga Y, Gothelf D, Pinchevski-Kadir S, et al. Endocrine manifestations in children with Williams-Beuren syndrome[J]. Acta Paediatr, 2018, 107(4):678-684.
[20] Ba �瘙 塂 tugˇ F, Nalçacogˇlu H, Ba �瘙 塂 VN, et al. Acute renal failure due to severe hypercalcemia and nephrocalcinosis treated with two doses of pamidronate in an infant with Williams-Beuren syndrome[J]. Turk J Pediatr, 2018, 60(2):210-215.
[21] Silva L, Kim CA, Matas CG. Characteristics of auditory evaluation in Williams syndrome: a systematic review[J]. Codas, 2018, 30(5):e20170267.
[22] Ferreira SB, Viana MM, Maia NG, et al. Oral findings in Williams-Beuren syndrome[J]. Med Oral Patol Oral Cir Bucal, 2018, 23(1):e1-e6.
[23] Royston R, Oliver C, Moss J, et al. Brief report: repetitive behaviour profiles in Williams syndrome: cross syndrome comparisons with Prader-Willi and Down syndromes[J]. J Autism Dev Disord, 2018, 48(1):326-331.
[24] Fisher MH, Morin L. Addressing social skills deficits in adults with Williams syndrome[J]. Res Dev Disabil, 2017, 71:77-87.

备注/Memo

备注/Memo:
基金项目:上海市科委基金(20025800300)
通信作者:陈会文,E-mail:chenhuiwen@scmc.com.cn
更新日期/Last Update: 2021-08-15