2例Williams综合征报道

郭 　健, 陆 华保, 桑 德春
北京华生康复医院

摘要

威廉姆斯综合征（WS）是一种罕见的遗传疾病，表型谱广泛，多系统受累。本文就2例门诊就诊的WS患
者进行汇报分享，并进行了威廉姆斯综合征的高危因素、显著特征、诊断、治疗等相关文献的复习。文章最后，笔
者就建议患者进行基因检测的思考及本文不足之处进行了简单论述。

关键词

Williams综合征；Williams-Beuren Syndrome

参考

[1]Beth A.Kozel, Boaz Barak, Chong Ae Kim,etl.Williams

syndrome[J]. NATURE REVIEWS DISEASE PRIMeRS Article

citation ID: (2021) 7:42

[2] 王鑫，吴东，康冰，等 . 一例 Williams-Beuren 综

合征患儿的遗传学诊断与分析 [J]. 中国优生与遗传杂志，

2018，26（10）：111.

[3] 黄 琴 蓉， 肖 农， 陈 玉 霞， 等 . 儿 童 Williams_xfffe_Beuren 综合征九例临床分析 [J]. 中国全科医学，2018，21

（18）：2238-2241.

[4] 朱旭，计晓娟 . 威廉斯综合征临床诊疗研究进展

[J]. 国际儿科学杂志，2017，44（2）：80-84.

[5] 解春红，邵洁，秦玉峰，等 . 威廉斯综合征的临

床特征与基因诊断的关系 [C].2007 年浙江省儿科学、小

儿外科学学术年会论文汇编 . 重庆：全国儿童保健学术会

议，2007：148-152.

[6]Lowery MC, Morris CA, Ewart A, et al. Strong

correlation of elastin deletions, detected by FISH, with

Williams syndrome: evaluation of 235 patients[J]. Am J Hum

Genet, 1995, 57(1): 49.

[7]American Academy of Pediatrics. Health care

supervision for children with Williams syndrome[J]. Pediatrics,

2001,107(5): 1192-204

[8]Bagul PK, Borgaonkar DV, Jaiswal V, et al. Myriad

manifestations of Williams syndrome[J]. Indian Heart J, 2015.

67(2):156-158.

[9]Salgado H, Martins-Correia L. William Syndrome

and psychosis: a case report[J].J Med Case Rep,2014,8(1):49.

DOI:10.1186/1752-1947-8-49.

[10]Pober BR. Williams Beuren Syndrome [J].N Engl J

Med,2010,362(3)239-252.DOI:10.1056/ENJMra0903074.

[11]Bagul PK，Borgaonkar DV, Jaiswl V, et al.

Cardiovascular abnormalities, interventions, and long-term

outcomes in infantile Williams Syndrome[J]. Indian Heart

J,2015,67(2): 156-158.DOI: 10.1016/j.ihj.2015.02.026.

[12]Collins II,RT,Kaplan P,Rome JJ. Stenosis of

the thoracic aorta in Williams Syndrome[J]. Pediatr

Cardiol,2010,31(6): 829-833.DOI:10.1007/s00246-010-

9713-x.

[13]Fusco C, Micale L, Augello B, et al. smaller and

larger deletions of the Williams Syndrome region implicate

genes involved in mild facial phenotype, epilepsy and autistic

traits[J]. Eur J Hum Genet,2014,22(1):64-70. DOI:10.1038/

ejhg.2013.101.

[14] 朱 海 燕， 季 春 燕， 张 海 荣 . 两 例 Williams 综 合

征患者的基因型及表型分析 [J]. 中华医学遗传学杂志，

2016，33（1）：68-70.

[15]Plaja A，Castells N，Cueto-González AM，et al.

A Novel Recurrent Breakpoint Responsible for Rearrangements

in the Williams-Beuren Region[J].Cytogenet Genome Res，

2015，146 （3）：181-186.

[16]Michael Lugo,Zoë C.Wong Charles J. Billington Jr,

et al. Social, neurodevelopmental, endocrine, and head size

differences associated with atypical deletions in Williams–

Beuren syndrome[J].Am J Med Genet. 2020;1–13.

[17] 朱旭，计晓娟 . 威廉斯综合征诊疗研究进展 [J].

国际儿科学杂志，2017，44（2）：81.

[18]Behrouz Kassai,Philippe Bouyé,Brigitte GilbertDussardier, 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.

[ 1 9 ] Y a e l L e v y - S h r a g a , D o r o n G o t h e l f , S h i r a n

Pinchevski-Kadir, et al. Endocrine manifestations

in children with Williams-Beuren syndrome[J]. Acta

Paediatr,2018,107(4):678-684

[20] 姜丽红，鲍鹏丽，郑荣秀，等 . 快进展型青春期

威廉姆斯综合征女童 1 例 GnRHa 治疗分析 [J]. 临床儿科杂

志，39（4）：298.

[21]Funda Baştuğ,Hülya Nalçacıoğlu,Veysel Nijat

Baş, 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

[22]Silva L , Kawahira R , Chong A K , et al. Auditory

hypersensitivity in Williams syndrome[J]. International Journal

of Pediatric Otorhinolaryngology, 2021, 146:110740.

[23] 李芳芳，季钗 .Williams 综合征听力学表现及其

发生机制的研究进展 [J]. 中华耳科学杂志 2021，19（5）：

844.

[24]S-B-P Ferreira,M-M Viana,N-G-F Maia, et al. Oral

findings in Williams-Beuren syndrome[J]. Med Oral Patol Oral

Cir Bucal,2018,23(1): e1-e6

[25]D Miezah,M Porter,A Rossi, et al. Cognitive profile of

young children with Williams syndrome[J]. J Intellect Disabil

Res,2021,65(8):784-794

[26]Jo Van Herwegen,Maria Ashworth,Olympia Palikara,

et al. 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.

[27]Boaz Barak,Zicong Zhang,Yuanyuan Liu, 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

[28]DAMASCENO, Marcelo, Loquette, et al. Prevalence

of scoliosis in Williams-Beuren syndrome patients treated at a

regional reference center.[J]. Clinics, 2014. 69(7):452-6.