• 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

伴有明显颈椎管狭窄和脊髓受压的短指（趾）型点状软骨发育不良：两例报告

Brachytelephalangic chondrodysplasia punctata with marked cervical stenosis and cord compression: report of two cases.

作者信息

Herman Thomas E, Lee Benjamin C P, McAlister William H

机构信息

St. Louis Children's Hospital Department of Radiology, 510 South Kingshighway Blvd., St. Louis, MO 63110, USA.

出版信息

Pediatr Radiol. 2002 Jun;32(6):452-6. doi: 10.1007/s00247-001-0638-7. Epub 2002 Feb 2.

DOI:10.1007/s00247-001-0638-7
PMID:12029348
Abstract

Severe cervical spine stenosis with cord compression has not been well documented in brachytelephalangic chondrodysplasia punctata. We report two boys with phenotypic features of brachytelephalangic chondrodysplasia punctata who had severe cervical spine stenosis secondary to dysplastic cervical vertebrae, and discuss the significance of this association and its relation to the phenotypically similar Binder phenotype.

摘要

严重颈椎管狭窄伴脊髓受压在短指型点状软骨发育不良中尚无充分记录。我们报告了两名具有短指型点状软骨发育不良表型特征的男孩，他们因颈椎发育异常继发严重颈椎管狭窄，并讨论了这种关联的意义及其与表型相似的Binder 表型的关系。

相似文献

1
Brachytelephalangic chondrodysplasia punctata with marked cervical stenosis and cord compression: report of two cases.伴有明显颈椎管狭窄和脊髓受压的短指（趾）型点状软骨发育不良：两例报告
Pediatr Radiol. 2002 Jun;32(6):452-6. doi: 10.1007/s00247-001-0638-7. Epub 2002 Feb 2.
2
Brachytelephalangic chondrodysplasia punctata with severe spinal cord compression: report of four new cases.伴有严重脊髓受压的短指（趾）型点状软骨发育不良：4例新病例报告
Eur J Pediatr. 2007 Apr;166(4):327-31. doi: 10.1007/s00431-006-0239-4. Epub 2006 Aug 26.
3
Prenatal diagnosis of cervical spinal cord compression in chondrodysplasia punctata brachytelephalangic type: A case report and literature review.点状软骨发育异常短指型颈椎脊髓压迫症的产前诊断：一例报告及文献综述
Congenit Anom (Kyoto). 2013 Dec;53(4):160-2. doi: 10.1111/cga.12003.
4
[Acute tetraparesis in cervical spinal stenosis caused by chondrodystrophy].软骨发育不良所致颈椎管狭窄症中的急性四肢轻瘫
Psychiatr Neurol Med Psychol (Leipz). 1990 Jul;42(7):430-4.
5
Cervical spine stenosis in chondrodysplasia punctata.点状软骨发育不良中的颈椎管狭窄
J Pediatr Orthop B. 2007 Nov;16(6):443-5. doi: 10.1097/BPB.0b013e3282f05675.
6
Cervical spinal cord compression in chondrodysplasia punctata. Case illustration.
J Neurosurg. 2006 Mar;104(3 Suppl):212. doi: 10.3171/ped.2006.104.3.212.
7
Cervical Spine Deformities in Children With Rhizomelic Chondrodysplasia Punctata.点状软骨发育异常患儿的颈椎畸形
J Pediatr Orthop. 2019 Oct;39(9):e680-e686. doi: 10.1097/BPO.0000000000001014.
8
Prenatal diagnosis of brachytelephalangic chondrodysplasia punctata: case report.短指-骨干型点状软骨发育不良的产前诊断：病例报告。
Ultrasound Obstet Gynecol. 2009 Dec;34(6):724-6. doi: 10.1002/uog.7452.
9
Chondrodysplasia punctata with multiple congenital anomalies: a new syndrome?点状软骨发育不良伴多发先天性异常：一种新综合征？
Pediatr Radiol. 1998 Oct;28(10):790-3. doi: 10.1007/s002470050466.
10
Cervical spine abnormalities and instability with myelopathy in warfarin-related chondrodysplasia: 17-year follow-up.
Pediatr Radiol. 1998 Jul;28(7):497-9. doi: 10.1007/s002470050394.

引用本文的文献

1
Cervical corpectomy in a pediatric patient with chondrodysplasia punctata and C5 dysplasia with spinal cord compression: illustrative case.患有点状软骨发育不良和C5发育异常并伴有脊髓受压的儿科患者的颈椎椎体切除术：病例说明
J Neurosurg Case Lessons. 2023 Nov 20;6(21). doi: 10.3171/CASE23302.
2
Prenatal findings in a fetus with X-linked recessive type of chondrodysplasia punctata (CDPX1): a case report with novel mutation.伴 X 连锁隐性型点状软骨发育不良（CDPX1）胎儿的产前发现：一例伴有新突变的病例报告。
BMC Pediatr. 2019 Jul 23;19(1):250. doi: 10.1186/s12887-019-1629-x.
3
Successful Treatment of Atlantoaxial Subluxation in an Adolescent Patient with BrachytelephalangicChondrodysplasia Punctata.
成功治疗一名患有短指（趾）点状软骨发育不良的青少年患者的寰枢椎半脱位。
Case Rep Orthop. 2019 Jan 27;2019:5974281. doi: 10.1155/2019/5974281. eCollection 2019.
4
Brachytelephalangic chondrodysplasia punctata: A difficult diagnosis.短指（趾）型点状软骨发育不良：一项疑难诊断。
Radiol Case Rep. 2015 Nov 6;5(1):308. doi: 10.2484/rcr.v5i1.308. eCollection 2010.
5
Rare Case of Rhizomelic Chondrodysplasia Punctata.点状骨骺性肢根型软骨发育不良罕见病例
J Orthop Case Rep. 2015 Jul-Sep;5(3):38-40. doi: 10.13107/jocr.2250-0685.303.
6
Brachytelephalangic chondrodysplasia punctata caused by new small hemizygous deletion in a boy presenting with hearing loss.一名患有听力损失的男孩因新的小半合子缺失导致短指（趾）型点状软骨发育不良。
Mol Cytogenet. 2015 Oct 31;8:83. doi: 10.1186/s13039-015-0187-7. eCollection 2015.
7
Calcification and airway stenosis in a child with chondrodysplasia calcificans punctata.点状钙化性软骨发育不良患儿的钙化与气道狭窄
BMJ Case Rep. 2014 Sep 22;2014:bcr2014205087. doi: 10.1136/bcr-2014-205087.
8
A case of rhizomelic chondrodysplasia punctata in newborn.一例新生儿的肢根型点状软骨发育不良。
Case Rep Med. 2014;2014:879679. doi: 10.1155/2014/879679. Epub 2014 Mar 9.
9
Clinical and radiological pictures of two newborn babies with manifestations of chondrodysplasia punctata and review of available literature.两名患有点状软骨发育不良表现的新生儿的临床和放射学影像以及现有文献综述。
Pol J Radiol. 2013 Apr;78(2):57-64. doi: 10.12659/PJR.883947.
10
Natural history and management of cervical spine disease in chondrodysplasia punctata and coumarin embryopathy.点状软骨发育不良和香豆素胚胎病中颈椎疾病的自然病史与管理
Childs Nerv Syst. 2012 Apr;28(4):609-19. doi: 10.1007/s00381-012-1694-z. Epub 2012 Jan 25.