• 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

Nager acrofacial dysostosis.

作者信息

McDonald M T, Gorski J L

机构信息

Department of Pediatrics, University of Michigan Medical Center, Ann Arbor 48109-0688.

出版信息

J Med Genet. 1993 Sep;30(9):779-82. doi: 10.1136/jmg.30.9.779.

DOI:10.1136/jmg.30.9.779
PMID:8411075
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1016537/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/023c/1016537/3039adea1f26/jmedgene00011-0070-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/023c/1016537/6de52a431feb/jmedgene00011-0069-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/023c/1016537/c8b9567b30f6/jmedgene00011-0070-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/023c/1016537/3039adea1f26/jmedgene00011-0070-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/023c/1016537/6de52a431feb/jmedgene00011-0069-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/023c/1016537/c8b9567b30f6/jmedgene00011-0070-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/023c/1016537/3039adea1f26/jmedgene00011-0070-b.jpg

相似文献

1
Nager acrofacial dysostosis.纳杰尔综合征(肢体颜面骨发育不全)。
J Med Genet. 1993 Sep;30(9):779-82. doi: 10.1136/jmg.30.9.779.
2
Nager acrofacial dysostosis: minor familial manifestations supporting dominant inheritance.
Clin Genet. 1993 Mar;43(3):127-31. doi: 10.1111/j.1399-0004.1993.tb04436.x.
3
Nager syndrome (preaxial acrofacial dysostosis): a case report.
Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2004 Jun;97(6):732-8. doi: 10.1016/j.tripleo.2003.11.018.
4
Nager acrofacial dysostosis: early intervention and long-term planning.纳杰尔肢端颜面发育不全:早期干预与长期规划。
Cleft Palate J. 1977 Jan;14(1):35-40.
5
Nager acrofacial dysostosis: male-to-male transmission in 2 families.纳热尔综合征:2个家族中的男性间遗传。
Am J Med Genet. 1991 Oct 1;41(1):83-8. doi: 10.1002/ajmg.1320410121.
6
Nager acrofacial dysostosis: autosomal dominant inheritance in mild to moderately affected mother and lethally affected phocomelic son.纳热尔肢体颜面发育不全:轻度至中度受累母亲及致死性短肢畸形儿子的常染色体显性遗传。
Am J Med Genet. 1989 Jul;33(3):394-7. doi: 10.1002/ajmg.1320330321.
7
Nager syndrome in patient lacking acrofacial dysostosis: Expanding the phenotypic spectrum of SF3B4-related disease.患者无颅面发育不全的 Nager 综合征:扩大 SF3B4 相关疾病的表型谱。
Am J Med Genet A. 2021 May;185(5):1515-1518. doi: 10.1002/ajmg.a.62113. Epub 2021 Feb 8.
8
Nager's acrofacial dysostosis with thumb duplication: report of a case.伴有拇指重复畸形的纳热型肢体颜面骨发育不全:病例报告
Clin Genet. 1984 Sep;26(3):228-30. doi: 10.1111/j.1399-0004.1984.tb04372.x.
9
Robin sequence and oligodactyly in mother and son--probably a further example of the postaxial acrofacial dysostosis syndrome.母子均患罗宾序列征和少指畸形——可能是轴后性颌面发育不全综合征的又一病例
Am J Med Genet. 1987 Aug;27(4):953-7. doi: 10.1002/ajmg.1320270423.
10
Nager acrofacial dysostosis and preaxial polydactyly: a further example with lethal outcome.纳热尔综合征并轴前多指(趾)畸形:一个致死结局的新病例
Genet Couns. 1993;4(2):135-7.

引用本文的文献

1
Thalidomide-induced limb malformations: an update and reevaluation.沙利度胺所致肢体畸形:最新进展与重新评估
Arch Toxicol. 2025 May;99(5):1643-1747. doi: 10.1007/s00204-024-03930-z. Epub 2025 Apr 8.
2
Children with Rare Nager Syndrome-Literature Review, Clinical and Physiotherapeutic Management.罕见的纳尔格综合征患儿——文献综述、临床和物理治疗管理。
Genes (Basel). 2023 Dec 24;15(1):29. doi: 10.3390/genes15010029.
3
First case report of Nager syndrome patient from Georgia.来自格鲁吉亚的纳热尔综合征患者的首例病例报告。

本文引用的文献

1
THE TREACHER-COLLINS SYNDROME.特雷彻-柯林斯综合征
Arch Otolaryngol. 1964 Nov;80:505-20. doi: 10.1001/archotol.1964.00750040519006.
2
CONGENITAL ANOMALIES IN THE NEWBORN INFANT, INCLUDING MINOR VARIATIONS. A STUDY OF 4,412 BABIES BY SURFACE EXAMINATION FOR ANOMALIES AND BUCCAL SMEAR FOR SEX CHROMATIN.新生儿先天性异常,包括轻微变异。对4412名婴儿进行体表异常检查和口腔涂片性染色质检查的研究。
J Pediatr. 1964 Mar;64:357-71. doi: 10.1016/s0022-3476(64)80188-8.
3
Mandibulofacial dysostosis.下颌面骨发育不全
SAGE Open Med Case Rep. 2022 Dec 12;10:2050313X221144219. doi: 10.1177/2050313X221144219. eCollection 2022.
4
Possible autosomal recessive inheritance in a neonate with Nager syndrome: Case report.一名患有纳格综合征的新生儿可能存在常染色体隐性遗传:病例报告。
Ann Med Surg (Lond). 2021 Sep 27;70:102896. doi: 10.1016/j.amsu.2021.102896. eCollection 2021 Oct.
5
Targeted Next-Generation Sequencing in the Diagnosis of Facial Dysostoses.靶向新一代测序技术在面部发育异常诊断中的应用
Front Genet. 2020 Nov 11;11:580477. doi: 10.3389/fgene.2020.580477. eCollection 2020.
6
Review of the Genetic Basis of Jaw Malformations.颌骨畸形的遗传基础综述。
J Pediatr Genet. 2016 Dec;5(4):209-219. doi: 10.1055/s-0036-1593505. Epub 2016 Oct 12.
7
Genetic Advances in the Understanding of Microtia.耳郭畸形认识中的遗传学进展
J Pediatr Genet. 2016 Dec;5(4):189-197. doi: 10.1055/s-0036-1592422. Epub 2016 Sep 23.
8
Propranolol-induced gingival hyperplasia with Nager syndrome: A rare adverse drug reaction.普萘洛尔诱发的牙龈增生伴纳格尔综合征:一种罕见的药物不良反应。
J Adv Pharm Technol Res. 2016 Apr-Jun;7(2):64-8. doi: 10.4103/2231-4040.179749.
9
Sf3b4-depleted Xenopus embryos: A model to study the pathogenesis of craniofacial defects in Nager syndrome.Sf3b4基因缺失的非洲爪蟾胚胎:一种研究纳格综合征颅面缺陷发病机制的模型
Dev Biol. 2016 Jul 15;415(2):371-382. doi: 10.1016/j.ydbio.2016.02.010. Epub 2016 Feb 11.
10
Dental Management of a Patient with Nager Acrofacial Dysostosis.纳杰尔综合征患者的口腔管理
Case Rep Dent. 2015;2015:984732. doi: 10.1155/2015/984732. Epub 2015 Oct 7.
Chin Med J. 1960 Apr;80:373-5.
4
The surgical treatment of the atresia auris congenita; a clinical and histological report.先天性耳道闭锁的外科治疗;临床与组织学报告。
Laryngoscope. 1954 Aug;64(8):666-84. doi: 10.1288/00005537-195408000-00003.
5
Recurrence of the postaxial acrofacial dysostosis syndrome in a sibship: implications for genetic counseling.
J Pediatr. 1981 Jan;98(1):87-8. doi: 10.1016/s0022-3476(81)80546-x.
6
Acrofacial dysostosis (Nager syndrome): synopsis and report of a new case.肢端面部发育不全(纳杰尔综合征):综述及一例新病例报告。
Am J Med Genet. 1983 Jun;15(2):255-60. doi: 10.1002/ajmg.1320150208.
7
Brief clinical report: syndrome of acrofacial dysostosis, cleft lip/palate, and triphalangeal thumb in a Brazilian family.简要临床报告:巴西一个家族中的肢端面部发育不全、唇腭裂和三指节拇指综合征。
Am J Med Genet. 1983 Feb;14(2):225-9. doi: 10.1002/ajmg.1320140204.
8
Differential diagnosis of Nager acrofacial dysostosis syndrome: report of four patients with Nager syndrome and discussion of other related syndromes.纳杰尔肢体颜面发育不全综合征的鉴别诊断:4例纳杰尔综合征患者报告及其他相关综合征讨论
Am J Med Genet. 1983 Feb;14(2):209-24. doi: 10.1002/ajmg.1320140203.
9
Acrofacial dysostosis with severe facial clefting and limb reduction.伴有严重面部裂隙和肢体短小的肢端面部发育不全
Am J Med Genet. 1984 Mar;17(3):641-7. doi: 10.1002/ajmg.1320170314.
10
Nager's acrofacial dysostosis with thumb duplication: report of a case.伴有拇指重复畸形的纳热型肢体颜面骨发育不全:病例报告
Clin Genet. 1984 Sep;26(3):228-30. doi: 10.1111/j.1399-0004.1984.tb04372.x.