• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利:CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验

过度生长综合征的诊断方法

Approach to the Diagnosis of Overgrowth Syndromes.

作者信息

Suri Mohnish

机构信息

Nottingham Regional Clinical Genetics Service, Nottingham University Hospitals NHS Trust, The Gables, City Hospital Campus, Hucknall Road, Nottingham, NG5 1PB, UK.

出版信息

Indian J Pediatr. 2016 Oct;83(10):1175-87. doi: 10.1007/s12098-015-1958-1. Epub 2015 Dec 18.

DOI:10.1007/s12098-015-1958-1
PMID:26680784
Abstract

Overgrowth syndromes comprise a group of disorders associated with excessive growth and other features such as facial dysmorphism, developmental delay or intellectual disability, congenital anomalies, neurological problems and an increased risk of neoplasia. Recent advances in understanding the genetic basis of overgrowth syndromes has resulted in a move away from clinical classification to molecular classification of overgrowth syndromes. This review provides a structured clinical approach to patients with this group of disorders and includes most of the currently known overgrowth syndromes.

摘要

过度生长综合征包括一组与过度生长及其他特征相关的疾病,这些特征如面部畸形、发育迟缓或智力残疾、先天性异常、神经问题以及肿瘤形成风险增加。在理解过度生长综合征遗传基础方面的最新进展,已促使从临床分类转向过度生长综合征的分子分类。本综述为患有这组疾病的患者提供了一种结构化的临床方法,并涵盖了目前已知的大多数过度生长综合征。

相似文献

1
Approach to the Diagnosis of Overgrowth Syndromes.过度生长综合征的诊断方法
Indian J Pediatr. 2016 Oct;83(10):1175-87. doi: 10.1007/s12098-015-1958-1. Epub 2015 Dec 18.
2
Overgrowth syndromes - clinical and molecular aspects and tumour risk.生长过剩综合征——临床和分子方面以及肿瘤风险。
Nat Rev Endocrinol. 2019 May;15(5):299-311. doi: 10.1038/s41574-019-0180-z.
3
[Segmental overgrowth syndromes and therapeutic strategies].[节段性过度生长综合征及治疗策略]
Med Sci (Paris). 2020 Mar;36(3):235-242. doi: 10.1051/medsci/2020023. Epub 2020 Mar 31.
4
Epilepsy and overgrowth-intellectual disability syndromes: a patient organization perspective on collaborating to accelerate pathways to treatment.癫痫与过度生长-智力残疾综合征:患者组织对合作加速治疗途径的观点
Ther Adv Rare Dis. 2024 May 31;5:26330040241254123. doi: 10.1177/26330040241254123. eCollection 2024 Jan-Dec.
5
Perspectives on overgrowth syndromes.过度生长综合征的观点
Am J Med Genet. 1998 Oct 2;79(4):234-7.
6
A girl with 15q overgrowth syndrome and dup(15)(q24q26.3) that included telomeric sequences.一名患有15q过度生长综合征且存在包含端粒序列的dup(15)(q24q26.3)的女孩。
Korean J Lab Med. 2010 Jun;30(3):318-24. doi: 10.3343/kjlm.2010.30.3.318.
7
The Weaver syndrome: a rare type of primordial overgrowth.
Eur J Pediatr. 1981 Nov;137(3):277-82. doi: 10.1007/BF00443257.
8
Approach to overgrowth syndromes in the genome era.基因组时代过度生长综合征的处理方法。
Am J Med Genet C Semin Med Genet. 2019 Dec;181(4):483-490. doi: 10.1002/ajmg.c.31757. Epub 2019 Dec 2.
9
CLOVES syndrome: review of a PIK3CA-related overgrowth spectrum (PROS).CLOVES综合征:PIK3CA相关过度生长谱系(PROS)综述。
Clin Genet. 2017 Jan;91(1):14-21. doi: 10.1111/cge.12832. Epub 2016 Aug 3.
10
Generalized overgrowth syndromes with prenatal onset.产前起病的全身性过度生长综合征。
Curr Probl Pediatr Adolesc Health Care. 2015 Apr;45(4):97-111. doi: 10.1016/j.cppeds.2015.02.005. Epub 2015 Apr 7.

引用本文的文献

1
Screening Procedure for Hemihypertrophy: Preliminary Results of International Multicenter Prospective Study.半身肥大的筛查程序:国际多中心前瞻性研究的初步结果
Cent Asian J Glob Health. 2019 Mar 1;8(1):336. doi: 10.5195/cajgh.2019.336. eCollection 2019.

本文引用的文献

1
Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth.蛋白磷酸酶2A(PP2A)调节亚基B家族基因PPP2R5B、PPP2R5C和PPP2R5D的突变会导致人类过度生长。
Hum Mol Genet. 2015 Sep 1;24(17):4775-9. doi: 10.1093/hmg/ddv182. Epub 2015 May 13.
2
Pallister-Killian syndrome.帕利斯特-基利安综合征
Am J Med Genet C Semin Med Genet. 2014 Dec;166C(4):406-13. doi: 10.1002/ajmg.c.31423. Epub 2014 Nov 25.
3
Malan syndrome: Sotos-like overgrowth with de novo NFIX sequence variants and deletions in six new patients and a review of the literature.
马兰综合征:6例新患者出现类似索托斯综合征的过度生长,伴有新发NFIX序列变异和缺失,并对文献进行综述
Eur J Hum Genet. 2015 May;23(5):610-5. doi: 10.1038/ejhg.2014.162. Epub 2014 Aug 13.
4
PTEN hamartoma tumour syndrome: early tumour development in children.PTEN 错构瘤肿瘤综合征:儿童期的早期肿瘤发育。
Arch Dis Child. 2015 Jan;100(1):34-7. doi: 10.1136/archdischild-2014-305997. Epub 2014 Aug 11.
5
Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum.PIK3CA相关过度生长谱系的临床描述及自然病史。
Am J Med Genet A. 2014 Jul;164A(7):1713-33. doi: 10.1002/ajmg.a.36552. Epub 2014 Apr 29.
6
Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability.DNMT3A 基因突变导致伴有智力残疾的过度生长综合征。
Nat Genet. 2014 Apr;46(4):385-8. doi: 10.1038/ng.2917. Epub 2014 Mar 9.
7
Beckwith-Wiedemann syndrome: growth pattern and tumor risk according to molecular mechanism, and guidelines for tumor surveillance.贝克威思-威德曼综合征:根据分子机制的生长模式和肿瘤风险,以及肿瘤监测指南。
Horm Res Paediatr. 2013;80(6):457-65. doi: 10.1159/000355544. Epub 2013 Dec 4.
8
Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype.Weaver 综合征与 EZH2 突变:阐明临床表型。
Am J Med Genet A. 2013 Dec;161A(12):2972-80. doi: 10.1002/ajmg.a.36229. Epub 2013 Nov 8.
9
Proteus syndrome review: molecular, clinical, and pathologic features.变形综合征综述:分子、临床及病理特征
Clin Genet. 2014 Feb;85(2):111-9. doi: 10.1111/cge.12266. Epub 2013 Oct 23.
10
Therapeutic challenges in treating patients with fragile X syndrome and neoplasia.治疗脆性 X 综合征合并肿瘤患者的治疗挑战。
Pediatr Blood Cancer. 2013 Dec;60(12):E153-6. doi: 10.1002/pbc.24688. Epub 2013 Jul 20.