• 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

A distinct autosomal dominant craniosynostosis-brachydactyly syndrome.

作者信息

Glass I A, Chapman S, Hockley A D

机构信息

Genetics Unit, Birmingham Maternity Hospital, UK.

出版信息

Clin Dysmorphol. 1994 Jul;3(3):215-23.

PMID:7981856
Abstract

We report a family with an autosomal dominantly inherited craniosynostosis. Five affected individuals have been identified with a variable clinical picture of premature coronal sutural synostosis accompanied by a mild midfacial hypoplasia and hypertelorism, downslanting external palpebral fissures, beaking of the nose and brachydactyly. This pedigree appears to represent a distinct craniosynostosis entity.

摘要

相似文献

1
A distinct autosomal dominant craniosynostosis-brachydactyly syndrome.
Clin Dysmorphol. 1994 Jul;3(3):215-23.
2
Pycnodysostosis. Orthopedic aspects with a description of 14 new cases.致密性骨发育不全。骨科方面及14例新病例描述
Clin Orthop Relat Res. 1992 Jul(280):263-76.
3
A new lethal neonatal short limb dwarfism.一种新的致死性新生儿短肢侏儒症。
Clin Dysmorphol. 1996 Apr;5(2):159-64.
4
Variable expression in a dominantly inherited skeletal dysplasia with similarities to brachydactyly E and spondyloepiphyseal-spondyloperipheral dysplasia.
Clin Genet. 1979 Feb;15(2):160-6. doi: 10.1111/j.1399-0004.1979.tb01755.x.
5
Symphalangism and brachydactyly syndrome: report of the WL symphalangism-brachydactyly syndrome: review of literature and classification.
Birth Defects Orig Artic Ser. 1974;10(5):23-53.
6
A Korean family with the Muenke syndrome.一个患 Muenke 综合征的韩国家庭。
J Korean Med Sci. 2010 Jul;25(7):1086-9. doi: 10.3346/jkms.2010.25.7.1086. Epub 2010 Jun 17.
7
Craniosynostosis, Philadelphia type: a new autosomal dominant syndrome with sagittal craniosynostosis and syndactyly of the fingers and toes.费城型颅缝早闭:一种新的常染色体显性综合征,伴有矢状缝颅缝早闭及手指和脚趾并指(趾)畸形。
Am J Med Genet. 1996 Mar 15;62(2):184-91. doi: 10.1002/(SICI)1096-8628(19960315)62:2<184::AID-AJMG13>3.0.CO;2-K.
8
A family with the Saethre-Chotzen syndrome.一个患有塞特雷-乔岑综合征的家庭。
Am J Med Genet. 1985 Dec;22(4):649-58. doi: 10.1002/ajmg.1320220402.
9
Brachydactyly type E in two sibs with increased bone density and mental retardation. A new autosomal recessive syndrome?两例患有骨密度增加和智力发育迟缓的同胞兄妹患E型短指症。一种新的常染色体隐性综合征?
Genet Couns. 2004;15(4):421-8.
10
Craniosynostosis suggestive of Saethre-Chotzen syndrome: clinical description of a large kindred and exclusion of candidate regions on 7p.提示塞特雷-乔岑综合征的颅缝早闭:一个大家族的临床描述及7号染色体短臂候选区域的排除
Am J Med Genet. 1996 May 3;63(1):177-84. doi: 10.1002/(SICI)1096-8628(19960503)63:1<177::AID-AJMG31>3.0.CO;2-J.

引用本文的文献

1
Phenotype profile of a genetic mouse model for Muenke syndrome.孟克综合征基因小鼠模型的表型概况
Childs Nerv Syst. 2012 Sep;28(9):1483-93. doi: 10.1007/s00381-012-1778-9. Epub 2012 Aug 8.
2
Actual concepts in scaphocephaly : (an experience of 98 cases).舟状头畸形的实际概念:(98例经验)
J Med Life. 2011 Nov 14;4(4):424-31. Epub 2011 Nov 24.
3
Genetics of craniosynostosis: review of the literature.颅缝早闭的遗传学:文献综述
J Med Life. 2009 Jan-Mar;2(1):5-17.
4
Brachydactyly type B: linkage to chromosome 9q22 and evidence for genetic heterogeneity.B型短指症:与9号染色体q22区域的连锁关系及遗传异质性证据
Am J Hum Genet. 1999 Feb;64(2):578-85. doi: 10.1086/302255.
5
A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome.成纤维细胞生长因子受体3基因(FGFR3)中的一种独特的点突变定义了一种新的颅缝早闭综合征。
Am J Hum Genet. 1997 Mar;60(3):555-64.