• 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

主要唾液腺完全缺如。

Complete agenesis of major salivary glands.

作者信息

Berta E, Bettega G, Jouk P S, Billy G, Nugues F, Morand B

机构信息

Department of Maxillofacial Surgery, Grenoble Teaching Hospital Nord, Grenoble, France.

出版信息

Int J Pediatr Otorhinolaryngol. 2013 Oct;77(10):1782-5. doi: 10.1016/j.ijporl.2013.07.025. Epub 2013 Aug 28.

DOI:10.1016/j.ijporl.2013.07.025
PMID:23993206
Abstract

A 4 year-old female patient was treated for persistent right-sided dacryocystitis and xerostomia. MRI was performed to screen for a dry syndrome; which resulted in the diagnosis of agenesis of the parotid and submandibular glands as well as lacrimal duct malformation. An MRI of each parent was normal. The mother's history revealed 4 days of pyrexia during the 8th week of amenorrhea. This was an isolated case, with no family history, characterized by a febrile episode during pregnancy at the period of main salivary gland genesis. Epigenetic mechanisms could be implicated.

摘要

一名4岁女性患者因右侧持续性泪囊炎和口干接受治疗。进行了MRI检查以筛查干燥综合征;结果诊断为腮腺和颌下腺发育不全以及泪管畸形。每位家长的MRI检查结果均正常。母亲的病史显示,闭经第8周时有4天发热。这是一个孤立病例,无家族史,其特征是在主要唾液腺发育期间的孕期出现发热发作。可能涉及表观遗传机制。

相似文献

1
Complete agenesis of major salivary glands.主要唾液腺完全缺如。
Int J Pediatr Otorhinolaryngol. 2013 Oct;77(10):1782-5. doi: 10.1016/j.ijporl.2013.07.025. Epub 2013 Aug 28.
2
[Parotid and submandibular gland aplasia with atresia of the lacrimal canaliculi].
Dtsch Zahnarztl Z. 1978 Jun;33(6):415-7.
3
CT findings of head and neck anomalies in lacrimo-auriculo-dento-digital (LADD) syndrome.泪腺-耳-牙-指(LADD)综合征头颈部异常的CT表现。
Dentomaxillofac Radiol. 2005 Mar;34(2):102-5. doi: 10.1259/dmfr/65931528.
4
Unilateral Congenital Lacrimal Gland Agenesis With Contralateral Lacrimal Gland Hypoplasia.单侧先天性泪腺缺如伴对侧泪腺发育不全
J Pediatr Ophthalmol Strabismus. 2015 Oct 15;52 Online:e52-4. doi: 10.3928/01913913-20151007-11.
5
Case report: aplasia of the lacrimal and major salivary glands (ALSG).病例报告:泪腺和主要唾液腺发育不全(ALSG)
Int J Pediatr Otorhinolaryngol. 2009 Jun;73(6):899-901. doi: 10.1016/j.ijporl.2009.03.004. Epub 2009 Apr 18.
6
Agenesis or hypoplasia of major salivary and lacrimal glands.
Am J Med Genet. 1990 Nov;37(3):371-4. doi: 10.1002/ajmg.1320370316.
7
LADD syndrome is caused by FGF10 mutations.LADD综合征由成纤维细胞生长因子10(FGF10)突变引起。
Clin Genet. 2006 Apr;69(4):349-54. doi: 10.1111/j.1399-0004.2006.00597.x.
8
Congenital absence of parotid glands and lacrimal puncta.
J Clin Pediatr Dent. 1998 Spring;22(3):247-8.
9
FGF10 missense mutations in aplasia of lacrimal and salivary glands (ALSG).泪腺和唾液腺发育不全(ALSG)中的成纤维细胞生长因子10(FGF10)错义突变。
Eur J Hum Genet. 2007 Mar;15(3):379-82. doi: 10.1038/sj.ejhg.5201762. Epub 2007 Jan 10.
10
New pathogenic variant in the FGF10 gene in the agenesis of lacrimal and salivary gland syndrome: Ophthalmological and genetic study.泪腺和唾液腺发育不全综合征中FGF10基因的新致病变异:眼科与遗传学研究
Ophthalmic Genet. 2018 Jan-Feb;39(1):125-128. doi: 10.1080/13816810.2017.1381976. Epub 2017 Oct 20.

引用本文的文献

1
Aplasia of the Major and Minor Salivary Glands: Report of a Rare Case.大、小唾液腺发育不全:1例罕见病例报告。
J Oral Maxillofac Res. 2022 Dec 31;13(4):e5. doi: 10.5037/jomr.2022.13405. eCollection 2022 Oct-Dec.
2
Asymptomatic unilateral aplasia of the left parotid gland: an unusual entity and case report.无症状性左侧腮腺单侧发育不全:一种罕见病例及病例报告
Radiol Case Rep. 2021 Sep 6;16(11):3453-3456. doi: 10.1016/j.radcr.2021.07.096. eCollection 2021 Nov.
3
Unusual Conditions Impairing Saliva Secretion: Developmental Anomalies of Salivary Glands.
影响唾液分泌的异常情况:唾液腺发育异常
Front Physiol. 2019 Jul 3;10:855. doi: 10.3389/fphys.2019.00855. eCollection 2019.
4
Aplasia of the lacrimal and major salivary glands (ALSG). First case report in spanish population and review of the literature.泪腺和主要唾液腺发育不全(ALSG)。西班牙人群中的首例病例报告及文献综述。
J Clin Exp Dent. 2018 Dec 1;10(12):e1238-e1241. doi: 10.4317/jced.55350. eCollection 2018 Dec.
5
Congenital Unilateral Agenesis of the Parotid Gland: A Case Report and Review of the Literature.先天性单侧腮腺缺如:一例报告并文献复习
Case Rep Dent. 2016;2016:2672496. doi: 10.1155/2016/2672496. Epub 2016 Nov 8.