• 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

Brief clinical report: a sixth report (eighth case) of craniosynostosis-radial aplasia (Baller-Gerold) syndrome.

作者信息

Pelias M Z, Superneau D W, Thurmon T F

出版信息

Am J Med Genet. 1981;10(2):133-9. doi: 10.1002/ajmg.1320100206.

DOI:10.1002/ajmg.1320100206
PMID:7315870
Abstract

We report a patient with craniosynostosis, radial aplasia, imperforate anus, and several associated congenital anomalies. It is concluded that she has the Baller-Gerold syndrome. Parenteral consanguinity supports the suggestion that this condition is inherited in an autosomal recessive manner.

摘要

相似文献

1
Brief clinical report: a sixth report (eighth case) of craniosynostosis-radial aplasia (Baller-Gerold) syndrome.
Am J Med Genet. 1981;10(2):133-9. doi: 10.1002/ajmg.1320100206.
2
Baller-Gerold syndrome: an 11th case of craniosynostosis and radial aplasia.
Am J Med Genet. 1990 Dec;37(4):447-50. doi: 10.1002/ajmg.1320370403.
3
Further delineation of the Baller-Gerold syndrome.巴莱-杰罗尔德综合征的进一步描述。
Am J Med Genet. 1993 Feb 15;45(4):519-24. doi: 10.1002/ajmg.1320450423.
4
Expanding the phenotypic spectrum of the Baller-Gerold syndrome.扩展巴勒-杰罗尔德综合征的表型谱。
Genet Couns. 2003;14(3):299-312.
5
Osteosarcoma in a 16-year-old boy with Baller-Gerold syndrome.
Clin Dysmorphol. 1995 Apr;4(2):161-8.
6
TWIST gene mutation in a patient with radial aplasia and craniosynostosis: further evidence for heterogeneity of Baller-Gerold syndrome.一名患有桡骨发育不全和颅缝早闭患者的TWIST基因突变：Baller-Gerold综合征异质性的进一步证据。
Am J Med Genet. 1999 Jan 15;82(2):170-6. doi: 10.1002/(sici)1096-8628(19990115)82:2<170::aid-ajmg14>3.0.co;2-x.
7
Baller-Gerold syndrome craniosynostosis-radial aplasia syndrome.
Clin Genet. 1980 Feb;17(2):161-6. doi: 10.1111/j.1399-0004.1980.tb00126.x.
8
Baller-Gerold syndrome associated with dextrocardia.
Genet Couns. 2011;22(1):69-74.
9
Normal growth and development in a child with Baller-Gerold syndrome (craniosynostosis and radial aplasia).患有巴勒-杰罗尔德综合征（颅缝早闭和桡骨发育不全）儿童的正常生长发育。
J Med Genet. 1990 Dec;27(12):784-7. doi: 10.1136/jmg.27.12.784.
10
Is there a Baller-Gerold syndrome?
Am J Med Genet. 1996 Jan 2;61(1):63-4. doi: 10.1002/ajmg.1320610103.

引用本文的文献

1
Anorectal malformation: the etiological factors.肛门直肠畸形：病因学因素
Pediatr Surg Int. 2015 Sep;31(9):795-804. doi: 10.1007/s00383-015-3685-0. Epub 2015 Apr 22.
2
Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene.重新审视颅缝早闭-桡骨发育不全关联：由RECQL4基因突变引起的巴莱尔-杰罗尔德综合征。
J Med Genet. 2006 Feb;43(2):148-52. doi: 10.1136/jmg.2005.031781. Epub 2005 Jun 17.
3
Fetal exposure to sodium valproate associated with Baller-Gerold syndrome: case report and review of the literature.
胎儿暴露于丙戊酸钠与巴勒-杰罗尔德综合征相关：病例报告及文献综述
Childs Nerv Syst. 2006 Jan;22(1):90-4. doi: 10.1007/s00381-004-1089-x. Epub 2005 Mar 23.
4
Baller-Gerold syndrome associated with congenital portal venous malformation.伴有先天性门静脉畸形的巴勒尔-杰罗尔德综合征
J Med Genet. 1998 Sep;35(9):767-9. doi: 10.1136/jmg.35.9.767.
5
A case of Baller-Gerold syndrome following in vitro fertilization-embryo transfer.1例体外受精-胚胎移植后发生的巴莱-杰罗尔德综合征病例。
J Assist Reprod Genet. 1996 Jan;13(1):79-81. doi: 10.1007/BF02068875.
6
Teratogenic effects in a case of maternal treatment for acute myelocytic leukaemia--neonatal and infantile course.急性髓细胞白血病母亲治疗病例中的致畸作用——新生儿及婴儿病程
Eur J Pediatr. 1994 Jul;153(7):488-91. doi: 10.1007/BF01957002.
7
Phenotypic variability in the Baller-Gerold syndrome: report of a mildly affected patient and review of the literature.
Eur J Pediatr. 1994 Jul;153(7):483-7. doi: 10.1007/BF01957001.
8
The Baller-Gerold syndrome: phenotypic and cytogenetic overlap with Roberts syndrome.巴莱-杰罗尔德综合征：与罗伯茨综合征的表型和细胞遗传学重叠
J Med Genet. 1990 Jun;27(6):371-5. doi: 10.1136/jmg.27.6.371.
9
Normal growth and development in a child with Baller-Gerold syndrome (craniosynostosis and radial aplasia).患有巴勒-杰罗尔德综合征（颅缝早闭和桡骨发育不全）儿童的正常生长发育。
J Med Genet. 1990 Dec;27(12):784-7. doi: 10.1136/jmg.27.12.784.
10
The Baller-Gerold syndrome.巴莱-杰罗尔德综合征
J Med Genet. 1992 Apr;29(4):266-8. doi: 10.1136/jmg.29.4.266.