• 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

弗里曼-谢尔顿综合征的遗传异质性：两名可能为常染色体隐性遗传的成年人。

Genetic heterogeneity in the Freeman-Sheldon syndrome: two adults with probable autosomal recessive inheritance.

作者信息

Fitzsimmons J S, Zaldua V, Chrispin A R

出版信息

J Med Genet. 1984 Oct;21(5):364-8. doi: 10.1136/jmg.21.5.364.

DOI:10.1136/jmg.21.5.364
PMID:6502650
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1049318/
Abstract

We report two sibs with the clinical features of the Freeman-Sheldon syndrome. T parents were unaffected and consanguineous, suggesting recessive inheritance.

摘要

我们报告了两名具有弗里曼-谢尔顿综合征临床特征的同胞。其父母未受影响且为近亲结婚，提示为隐性遗传。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d04d/1049318/0db596f3b0f0/jmedgene00103-0048-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d04d/1049318/cc5b41823d95/jmedgene00103-0045-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d04d/1049318/70b293532876/jmedgene00103-0045-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d04d/1049318/90910ff47ef3/jmedgene00103-0046-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d04d/1049318/5794b0e19f1a/jmedgene00103-0046-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d04d/1049318/a0a5f831d04a/jmedgene00103-0046-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d04d/1049318/85ca36f17132/jmedgene00103-0047-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d04d/1049318/0db596f3b0f0/jmedgene00103-0048-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d04d/1049318/cc5b41823d95/jmedgene00103-0045-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d04d/1049318/70b293532876/jmedgene00103-0045-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d04d/1049318/90910ff47ef3/jmedgene00103-0046-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d04d/1049318/5794b0e19f1a/jmedgene00103-0046-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d04d/1049318/a0a5f831d04a/jmedgene00103-0046-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d04d/1049318/85ca36f17132/jmedgene00103-0047-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d04d/1049318/0db596f3b0f0/jmedgene00103-0048-a.jpg

相似文献

1
Genetic heterogeneity in the Freeman-Sheldon syndrome: two adults with probable autosomal recessive inheritance.弗里曼-谢尔顿综合征的遗传异质性：两名可能为常染色体隐性遗传的成年人。
J Med Genet. 1984 Oct;21(5):364-8. doi: 10.1136/jmg.21.5.364.
2
New evidence for genetic heterogeneity of the Freeman-Sheldon syndrome.
Am J Med Genet. 1986 Nov;25(3):507-11. doi: 10.1002/ajmg.1320250312.
3
Distal arthrogryposis type IIB: probable autosomal recessive inheritance.IIB型远端关节挛缩症：可能为常染色体隐性遗传。
Clin Genet. 1999 Jul;56(1):95-7. doi: 10.1034/j.1399-0004.1999.560115.x.
4
Clinical analysis of a variant of Freeman-Sheldon syndrome (DA2B).弗里曼-谢尔登综合征一种变异型（DA2B）的临床分析
Am J Med Genet. 1998 Feb 26;76(1):93-8. doi: 10.1002/(sici)1096-8628(19980226)76:1<93::aid-ajmg17>3.0.co;2-k.
5
Distal arthrogryposis type IIB in a girl: autosomal recessive inheritance?一名女童患IIB型远端关节挛缩症：常染色体隐性遗传？
Jinrui Idengaku Zasshi. 1984 Dec;29(4):447-51. doi: 10.1007/BF01876502.
6
Autosomal-dominant inheritance of distal arthrogryposis.远端关节挛缩症的常染色体显性遗传。
Am J Med Genet. 1980;6(2):163-9. doi: 10.1002/ajmg.1320060210.
7
Arthrogryposis multiplex congenita: neurogenic type with autosomal recessive inheritance.先天性多发性关节挛缩症：神经源性类型，常染色体隐性遗传。
J Med Genet. 1974 Mar;11(1):91-4. doi: 10.1136/jmg.11.1.91.
8
Prenatal growth retardation, pelvic hypoplasia, and arthrogrypotic changes of lower limbs: a distinct autosomal-recessive disorder.产前生长迟缓、骨盆发育不全及下肢关节挛缩改变：一种独特的常染色体隐性疾病。
Am J Med Genet. 1998 Feb 17;75(5):453-60.
9
Dominant distal arthrogryposis in a Maori family with marked variability of expression.一个毛利人家庭中具有明显表达变异性的显性远端关节挛缩症。
Am J Med Genet. 1995 Feb 13;55(4):414-9. doi: 10.1002/ajmg.1320550406.
10
Autosomal recessive micrencephaly with simplified gyral pattern, abnormal myelination and arthrogryposis.常染色体隐性遗传的小脑发育不全，伴有脑回模式简化、髓鞘形成异常和关节挛缩。
Neuropediatrics. 1999 Jun;30(3):141-5. doi: 10.1055/s-2007-973479.

引用本文的文献

1
Identification and Recent Approaches for Evaluation and Management of Rehabilitation Concerns for Patients with Freeman-Burian Syndrome: Principles for Global Treatment.弗里曼-伯里安综合征患者康复问题的评估与管理的识别及近期方法：全球治疗原则
J Pediatr Genet. 2020 Sep;9(3):158-163. doi: 10.1055/s-0040-1710339. Epub 2020 May 7.
2
Freeman-Burian syndrome.弗里曼-伯利安综合征。
Orphanet J Rare Dis. 2019 Jan 10;14(1):14. doi: 10.1186/s13023-018-0984-2.
3
Freeman-Sheldon Syndrome: First Molecularly Confirmed Case from Sub-Saharan Africa.

本文引用的文献

1
The distal arthrogryposes: delineation of new entities--review and nosologic discussion.远端关节挛缩症：新实体的界定——综述与疾病分类学讨论
Am J Med Genet. 1982 Feb;11(2):185-239. doi: 10.1002/ajmg.1320110208.
2
Cranio-carpo-tarsal dysplasia or the whistling face syndrome. II. Oral intercommissural distance in children.颅腕跗骨发育异常或吹口哨面容综合征。II. 儿童口腔 commissural 距离
Am J Dis Child. 1969 Apr;117(4):434-5. doi: 10.1001/archpedi.1969.02100030436008.
3
Cranio-carpo-tarsal dysplasia. Report of a case in father and son.
弗里曼-谢尔登综合征：撒哈拉以南非洲地区首例分子确诊病例。
Case Rep Genet. 2017;2017:9327169. doi: 10.1155/2017/9327169. Epub 2017 May 11.
4
Two novel mutations in myosin binding protein C slow causing distal arthrogryposis type 2 in two large Han Chinese families may suggest important functional role of immunoglobulin domain C2.肌球蛋白结合蛋白C中的两个新突变导致两个大型汉族家系出现2型远端关节挛缩症，这可能提示免疫球蛋白结构域C2具有重要的功能作用。
PLoS One. 2015 Feb 13;10(2):e0117158. doi: 10.1371/journal.pone.0117158. eCollection 2015.
5
Freeman-sheldon syndrome presenting with microstomia: a case report and literature review.以小口畸形为表现的弗里曼-谢尔顿综合征：一例报告及文献复习
J Maxillofac Oral Surg. 2013 Dec;12(4):395-9. doi: 10.1007/s12663-012-0392-4. Epub 2012 May 17.
6
Severe skew foot deformity in a patient with freeman-sheldon syndrome.弗里曼-谢尔登综合征患者的重度足内翻畸形
J Clin Med Res. 2011 Oct;3(5):265-7. doi: 10.4021/jocmr653e. Epub 2011 Sep 26.
颅腕跗骨发育异常。父子病例报告。
JAMA. 1970 Feb 23;211(8):1374-6. doi: 10.1001/jama.211.8.1374.
4
Diagnostic criteria for the whistling face syndrome.吹口哨面容综合征的诊断标准。
Birth Defects Orig Artic Ser. 1975;11(5):161-8.
5
Recessive form of Freeman-Sheldon's syndrome or 'whistling face',弗里曼-谢尔登综合征的隐性形式或“吹口哨脸”
J Med Genet. 1977 Apr;14(2):139-41. doi: 10.1136/jmg.14.2.139.