• 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

Spastic paraplegia associated with brachydactyly and cone shaped epiphyses.

作者信息

Fitzsimmons J S, Guilbert P R

机构信息

Department of Clinical Genetics, City Hospital, Nottingham.

出版信息

J Med Genet. 1987 Nov;24(11):702-5. doi: 10.1136/jmg.24.11.702.

DOI:10.1136/jmg.24.11.702
PMID:3430547
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1050351/
Abstract

Male uniovular twins presented at the age of 20 years with spastic paraplegia which had been slowly progressing over the years. Both have skeletal anomalies of their hands and feet with brachydactyly, cone shaped epiphyses, and an abnormal metaphyseal phalangeal pattern profile. In addition, they have a non-specific dysarthria and low-normal intellectual ability.

摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d2eb/1050351/61ad1fd5034a/jmedgene00085-0057-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d2eb/1050351/1a903fbc6ec8/jmedgene00085-0055-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d2eb/1050351/ebc5a15a3216/jmedgene00085-0055-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d2eb/1050351/32ad0b5ae46d/jmedgene00085-0056-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d2eb/1050351/61ad1fd5034a/jmedgene00085-0057-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d2eb/1050351/1a903fbc6ec8/jmedgene00085-0055-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d2eb/1050351/ebc5a15a3216/jmedgene00085-0055-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d2eb/1050351/32ad0b5ae46d/jmedgene00085-0056-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d2eb/1050351/61ad1fd5034a/jmedgene00085-0057-a.jpg

相似文献

1
Spastic paraplegia associated with brachydactyly and cone shaped epiphyses.
J Med Genet. 1987 Nov;24(11):702-5. doi: 10.1136/jmg.24.11.702.
2
Spastic paraplegia, dysarthria, brachydactyly, and cone shaped epiphyses: confirmation of the Fitzsimmons syndrome.痉挛性截瘫、构音障碍、短指畸形和椎体骨骺呈锥形：菲茨西蒙斯综合征的确诊
J Med Genet. 1994 Mar;31(3):251-2. doi: 10.1136/jmg.31.3.251.
3
Identical twins with mental retardation, dysarthria, progressive spastic paraplegia, and brachydactyly type E: a new syndrome or variant of Fitzsimmons-Guilbert syndrome?患有智力障碍、构音障碍、进行性痉挛性截瘫和E型短指畸形的同卵双胞胎：一种新综合征还是菲茨西蒙斯 - 吉尔伯特综合征的变体？
Am J Med Genet. 1999 May 21;84(2):90-3.
4
Metaphyseal acroscyphodysplasia.干骺端尖杯状发育异常
Clin Genet. 1991 May;39(5):362-9. doi: 10.1111/j.1399-0004.1991.tb03043.x.
5
Fitzsimmons syndrome: spastic paraplegia, brachydactyly and cognitive impairment.
Am J Med Genet A. 2009 Oct;149A(10):2254-7. doi: 10.1002/ajmg.a.33003.
6
Slowly progressive autosomal dominant spastic paraplegia with late onset, variable expression and reduced penetrance: a basis for diagnosis and counseling.迟发性、表达可变且外显率降低的缓慢进行性常染色体显性遗传性痉挛性截瘫：诊断与咨询的基础
Clin Genet. 1981 Jan;19(1):1-7. doi: 10.1111/j.1399-0004.1981.tb00659.x.
7
Familial spastic paraplegia, mental retardation, and precocious puberty.家族性痉挛性截瘫、智力发育迟缓与性早熟。
Arch Neurol. 1983 Dec;40(13):809-10. doi: 10.1001/archneur.1983.04050120059008.
8
Heredofamilial syndrome of spastic paraplegia, dysarthria and cutaneous lesions in ive siblings.五名兄弟姐妹患有的遗传性家族性痉挛性截瘫、构音障碍和皮肤病变综合征。
Dev Med Child Neurol. 1982 Aug;24(4):519-24. doi: 10.1111/j.1469-8749.1982.tb13659.x.
9
Cone-shaped epiphyses and other minor anomalies in the hands of normal British children.英国正常儿童手部的锥形骨骺及其他轻微异常。
J Pediatr. 1969 Aug;75(2):265-72. doi: 10.1016/s0022-3476(69)80397-5.
10
Four brothers with mental retardation, spastic paraplegia and palmoplantar hyperkeratosis. A new syndrome?四名患有智力障碍、痉挛性截瘫和掌跖角化过度的兄弟。一种新综合征？
Clin Genet. 1983 Apr;23(4):329-35. doi: 10.1111/j.1399-0004.1983.tb01887.x.

引用本文的文献

1
Genome sequencing and implications for rare disorders.基因组测序及其对罕见疾病的影响。
Orphanet J Rare Dis. 2019 Jun 24;14(1):153. doi: 10.1186/s13023-019-1127-0.
2
Phenotypic expansion illuminates multilocus pathogenic variation.表型扩展阐明了多位点的致病性变异。
Genet Med. 2018 Dec;20(12):1528-1537. doi: 10.1038/gim.2018.33. Epub 2018 Apr 26.
3
Spastic paraplegia, optic atrophy, microcephaly with normal intelligence, and XY sex reversal: a new autosomal recessive syndrome?痉挛性截瘫、视神经萎缩、智力正常的小头畸形以及XY性反转：一种新的常染色体隐性综合征？
J Med Genet. 1998 Sep;35(9):759-62. doi: 10.1136/jmg.35.9.759.
4
Spastic paraplegia, dysarthria, brachydactyly, and cone shaped epiphyses: confirmation of the Fitzsimmons syndrome.痉挛性截瘫、构音障碍、短指畸形和椎体骨骺呈锥形：菲茨西蒙斯综合征的确诊
J Med Genet. 1994 Mar;31(3):251-2. doi: 10.1136/jmg.31.3.251.

本文引用的文献

1
Hereditary "pure" spastic paraplegia: a clinical and genetic study of 22 families.遗传性“单纯”痉挛性截瘫：22个家系的临床与遗传学研究
J Neurol Neurosurg Psychiatry. 1981 Oct;44(10):871-83. doi: 10.1136/jnnp.44.10.871.
2
Hereditary spastic paraplegia with neurogenic bladder disturbances and syndactylia.伴有神经源性膀胱功能障碍和并指（趾）畸形的遗传性痉挛性截瘫
Acta Neurol Scand. 1980 Jan;61(1):35-41. doi: 10.1111/j.1600-0404.1980.tb02993.x.
3
Metacarpophalangeal pattern profiles in the evaluation of skeletal malformations.掌指骨形态轮廓在骨骼畸形评估中的应用
Radiology. 1972 Jul;104(1):1-11. doi: 10.1148/104.1.1.