• 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

骨骼发育不良中的冠状和矢状裂。

Coronal and sagittal clefts in skeletal dysplasias.

作者信息

Westvik J, Lachman R S

机构信息

Section of Paediatric Radiology, Department of Radiology, Rikshospitalet, University of Oslo, N-0027 Oslo, Norway.

出版信息

Pediatr Radiol. 1998 Oct;28(10):764-70. doi: 10.1007/s002470050462.

DOI:10.1007/s002470050462
PMID:9799298
Abstract

Objective. To assess the role of coronal and sagittal vertebral clefts in diagnosing skeletal dysplasias. Material and Methods. A search in the database at the International Skeletal Dysplasia Registry revealed 40 different diagnoses in which coronal or sagittal clefts were present, the major groups being: atelosteogenesis, chondrodysplasia punctata, dyssegmental dysplasia, Kniest dysplasia and short rib polydactyly syndrome. We reviewed all firm cases with both AP and lateral films of the spine in these major groups (n = 143), with patients' ages ranging from 20 weeks of gestation up to 26 years of age. Results. Ninety-four percent of all clefts were found in children less than 1 year of age, mainly located in the thoracolumbar region. Fifty-six percent of the clefts were observed in boys. Coronal clefts were more common than sagittal clefts. Clefts were most frequently observed in atelosteogenesis (88%), followed by chondrodysplasia punctata (79%), dyssegmental dysplasia (73%), Kniest dysplasia (63%) and short rib polydactyly syndrome (53%). Conclusion. Vertebral clefts are of major diagnostic value in the groups mentioned above, especially before 1 year of age. The search did not come up with new entities in which vertebral clefts are of major diagnostic value.

摘要

目的。评估冠状和矢状位椎体裂在骨骼发育异常诊断中的作用。材料与方法。在国际骨骼发育异常登记处的数据库中进行检索,发现40种不同诊断中存在冠状或矢状位裂隙,主要类别包括:骨发育不全、点状软骨发育不良、节段性发育不良、克尼斯发育不良和短肋多指综合征。我们回顾了这些主要类别中所有有脊柱前后位和侧位X线片的确诊病例(n = 143),患者年龄从妊娠20周直至26岁。结果。所有裂隙中有94%见于1岁以下儿童,主要位于胸腰段。56%的裂隙见于男孩。冠状位裂隙比矢状位裂隙更常见。裂隙最常见于骨发育不全(88%),其次是点状软骨发育不良(79%)、节段性发育不良(73%)、克尼斯发育不良(63%)和短肋多指综合征(53%)。结论。椎体裂在上述类别中具有重要诊断价值,尤其是在1岁之前。该检索未发现椎体裂具有重要诊断价值的新病种。

相似文献

1
Coronal and sagittal clefts in skeletal dysplasias.骨骼发育不良中的冠状和矢状裂。
Pediatr Radiol. 1998 Oct;28(10):764-70. doi: 10.1007/s002470050462.
2
Dyssegmental dysplasia with glaucoma.
Am J Med Genet. 1996 May 3;63(1):46-9. doi: 10.1002/(SICI)1096-8628(19960503)63:1<46::AID-AJMG10>3.0.CO;2-U.
3
Severe neurologic manifestations from cervical spine instability in spondylo-megaepiphyseal-metaphyseal dysplasia.脊柱骨骺干骺端发育不良导致颈椎不稳定的严重神经表现。
Am J Med Genet C Semin Med Genet. 2012 Aug 15;160C(3):230-7. doi: 10.1002/ajmg.c.31339. Epub 2012 Jul 12.
4
Atelosteogenesis.椎体发育不全
Am J Med Genet. 1982 Sep;13(1):15-25. doi: 10.1002/ajmg.1320130106.
5
A practical radiologic approach to skeletal dysplasias in infancy.婴儿期骨骼发育异常的实用放射学诊断方法。
Radiol Clin North Am. 1987 Nov;25(6):1211-33.
6
Micromelic dwarfism with cone epiphyses, metaphyseal dysplasia, and vertebral segmentation defects.伴有圆锥形骨骺、干骺端发育异常和椎体节段性缺陷的短肢侏儒症。
Am J Med Genet. 1996 Jan 11;61(2):164-7. doi: 10.1002/(SICI)1096-8628(19960111)61:2<164::AID-AJMG12>3.0.CO;2-S.
7
Atelosteogenesis type II: sonographic and radiological correlation.II型骨发育不全:超声与放射学相关性
Prenat Diagn. 1992 Sep;12(9):741-53. doi: 10.1002/pd.1970120907.
8
Metatropic dwarfism, the Kniest syndrome and the pseudoachondroplastic dysplasias.异染性侏儒症、克尼斯特综合征和假性软骨发育不全性发育异常。
Clin Orthop Relat Res. 1976 Jan-Feb(114):70-82.
9
Desbuquois dysplasia, a reevaluation with abnormal and "normal" hands: radiographic manifestations.德布凯发育不良:对异常和“正常”手部的重新评估及影像学表现
Am J Med Genet A. 2004 Jan 1;124A(1):48-53. doi: 10.1002/ajmg.a.20440.
10
Genetic skeletal dysplasia in Thailand: the Siriraj experience.泰国的遗传性骨骼发育异常:诗里拉吉医院的经验
Southeast Asian J Trop Med Public Health. 1995;26 Suppl 1:59-67.

引用本文的文献

1
Challenges and solutions in the treatment of spinal disorders in patients with skeletal dysplasia: A comprehensive review.骨骼发育不良患者脊柱疾病治疗中的挑战与解决方案:全面综述
World J Methodol. 2025 Dec 20;15(4):102401. doi: 10.5662/wjm.v15.i4.102401.
2
Use of magnetic resonance imaging in the diagnosis of fetal vertebral abnormalities in utero: a single-center retrospective cohort study.磁共振成像在产前诊断胎儿脊柱异常中的应用:一项单中心回顾性队列研究
Quant Imaging Med Surg. 2022 Jun;12(6):3391-3405. doi: 10.21037/qims-21-1070.
3
Best practice guidelines for management of spinal disorders in skeletal dysplasia.
骨骼发育不良脊柱疾病管理的最佳实践指南。
Orphanet J Rare Dis. 2020 Jun 24;15(1):161. doi: 10.1186/s13023-020-01415-7.
4
Phenotype and response to growth hormone therapy in siblings with B4GALT7 deficiency.B4GALT7 缺乏症患者兄妹的表型和生长激素治疗反应。
Bone. 2019 Jul;124:14-21. doi: 10.1016/j.bone.2019.03.029. Epub 2019 Mar 23.
5
Vertebral abnormality without spine-curvature deformity on prenatal ultrasonography: sonographic findings and postnatal radiographic correlations.产前超声检查发现的无脊柱弯曲畸形的椎体异常:超声表现及产后影像学相关性
J Med Ultrason (2001). 2018 Jan;45(1):89-95. doi: 10.1007/s10396-017-0790-9. Epub 2017 Apr 25.