• 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

Oculoauriculofrontonasal syndrome: report of another case and review of differential diagnosis.

作者信息

Toriello H V, Higgins J V, Mann R

机构信息

Butterworth Hospital, Grand Rapids, MI, USA.

出版信息

Clin Dysmorphol. 1995 Oct;4(4):338-46. doi: 10.1097/00019605-199510000-00010.

DOI:10.1097/00019605-199510000-00010
PMID:8574425
Abstract

We report a male with features of frontonasal dysplasia, but also with ocular and auricular defects. This child most likely has oculoauriculofrontonasal syndrome, an autosomal recessive syndrome first described in 1981. We also review the literature on this syndrome, and discuss differential diagnosis.

摘要

相似文献

1
Oculoauriculofrontonasal syndrome: report of another case and review of differential diagnosis.
Clin Dysmorphol. 1995 Oct;4(4):338-46. doi: 10.1097/00019605-199510000-00010.
2
Early prenatal diagnosis of oculoauriculofrontonasal syndrome by three-dimensional ultrasound.
Ultrasound Obstet Gynecol. 2005 Feb;25(2):184-6. doi: 10.1002/uog.1792.
3
Frontonasal dysplasia: analysis of 21 cases and literature review.额鼻发育异常：21例分析及文献复习
Int J Oral Maxillofac Surg. 1996 Apr;25(2):91-7. doi: 10.1016/s0901-5027(96)80048-8.
4
Frontonasal malformation and the oculoauriculovertebral spectrum: the oculoauriculofrontonasal syndrome.额鼻畸形与眼耳脊椎综合征：眼耳口鼻综合征
Cleft Palate Craniofac J. 1996 Nov;33(6):519-23. doi: 10.1597/1545-1569_1996_033_0519_fmatos_2.3.co_2.
5
Craniofacial manifestations of the amniotic band syndrome.羊膜带综合征的颅面表现。
Otolaryngol Head Neck Surg. 1997 Apr;116(4):525-8. doi: 10.1016/S0194-59989770303-6.
6
Frontonasal dysplasia, macroblepharon, eyelid colobomas, ear anomalies, macrostomia, mental retardation and CNS structural anomalies: defining the phenotype.
Clin Dysmorphol. 2001 Apr;10(2):81-6. doi: 10.1097/00019605-200104000-00002.
7
[The frontonasal dysplasia syndrome (DeMyer's syndrome) in a newborn aged two weeks].
Wiad Lek. 1990 Jun 1;43(11):543-7.
8
[Cardio-facio-cutaneous syndrome--visual diagnosis of a rare syndrome].
Klin Padiatr. 1994 May-Jun;206(3):181-3. doi: 10.1055/s-2008-1046600.
9
Otopalatodigital syndrome type II.II型耳腭指综合征
J Med Genet. 1993 Apr;30(4):310-3. doi: 10.1136/jmg.30.4.310.
10
Ocular abnormalities in craniofacial malformations.颅面畸形中的眼部异常。
Int Ophthalmol Clin. 1984 Spring;24(1):143-63. doi: 10.1097/00004397-198402410-00012.

引用本文的文献

1
Frontofacionasal Dysplasia in a Newborn with a De Novo Duplication of 7p15.2-p15.1.一名患有7p15.2 - p15.1新发重复的新生儿的额面鼻发育异常
AJP Rep. 2015 Oct;5(2):e111-e1115. doi: 10.1055/s-0035-1549299. Epub 2015 May 15.
2
Disruption of ALX1 causes extreme microphthalmia and severe facial clefting: expanding the spectrum of autosomal-recessive ALX-related frontonasal dysplasia.ALX1 突变导致严重的小眼和严重的面部裂：扩大常染色体隐性 ALX 相关额鼻发育不良的谱。
Am J Hum Genet. 2010 May 14;86(5):789-96. doi: 10.1016/j.ajhg.2010.04.002. Epub 2010 May 6.
3
Oculoauriculofrontonasal syndrome (OAFNS) in a nine-month-old male.
一名9个月大男性的眼耳口鼻综合征（OAFNS）
Am J Med Genet. 2002 Jan 15;107(2):169-73. doi: 10.1002/ajmg.10120.