• 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

LADD综合征的表型变异

Phenotypic variation in LADD syndrome.

作者信息

Thompson E, Pembrey M, Graham J M

出版信息

J Med Genet. 1985 Oct;22(5):382-5. doi: 10.1136/jmg.22.5.382.

DOI:10.1136/jmg.22.5.382
PMID:4078868
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1049483/
Abstract

A mother and son are reported with chronic dacrocystitis, cup shaped ears, hearing loss, abnormal teeth, and poor formation of saliva and tears. They are similar to previously reported cases of lacrimo-auriculo-dento-digital (LADD) syndrome. The variability of expression of this autosomal dominant syndrome is discussed, and it is suggested that poor saliva and tear formation be added to the phenotype.

摘要

据报道,一对母子患有慢性泪囊炎、杯状耳、听力丧失、牙齿异常以及唾液和泪液分泌不良。他们与先前报道的泪腺-耳-牙-指(LADD)综合征病例相似。本文讨论了这种常染色体显性综合征表达的变异性,并建议将唾液和泪液分泌不良添加到该综合征的表型中。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a303/1049483/92bc77aaff41/jmedgene00097-0056-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a303/1049483/e996e7238a83/jmedgene00097-0055-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a303/1049483/92bc77aaff41/jmedgene00097-0056-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a303/1049483/e996e7238a83/jmedgene00097-0055-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a303/1049483/92bc77aaff41/jmedgene00097-0056-a.jpg

相似文献

1
Phenotypic variation in LADD syndrome.LADD综合征的表型变异
J Med Genet. 1985 Oct;22(5):382-5. doi: 10.1136/jmg.22.5.382.
2
The lacrimo-auriculo-dento-digital syndrome.
Pediatrics. 1977 Jun;59(6):927-30.
3
The lacrimo-auriculo-dento-digital syndrome.泪腺-耳-齿-指综合征
J Pediatr. 1973 Sep;83(3):438-44. doi: 10.1016/s0022-3476(73)80268-9.
4
Lacrimo-auriculo-dento-digital (LADD) syndrome.
Birth Defects Orig Artic Ser. 1974;10(5):153-66.
5
LADD syndrome in five members of a three-generation family and prenatal diagnosis.
Genet Couns. 1994;5(1):85-91.
6
Phenotype and counseling in lacrimo-auriculo-dento-digital (LADD) syndrome.泪腺-耳-齿-指(LADD)综合征的表型与遗传咨询
Genet Couns. 1993;4(4):305-9.
7
Lacrimo-auriculo-dento-digital syndrome: a literature review and case reports.泪腺-耳-齿-指综合征:文献综述与病例报告
Quintessence Int. 1995 Dec;26(12):829-39.
8
Lacrimo-auriculo-dento-digital (LADD) syndrome with renal and foot anomalies.伴有肾脏和足部异常的泪腺-耳-齿-指(LADD)综合征。
Clin Genet. 1990 Sep;38(3):228-32. doi: 10.1111/j.1399-0004.1990.tb03574.x.
9
Characteristics of lacrimo-auriculo-dento-digital (LADD) syndrome: case report of a family and literature review.泪腺-耳-齿-指(LADD)综合征的特征:一家系病例报告及文献复习
Int J Pediatr Otorhinolaryngol. 2006 Jul;70(7):1307-14. doi: 10.1016/j.ijporl.2005.12.015. Epub 2006 Feb 7.
10
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.

引用本文的文献

1
Lacrimo-auriculo-dento-digital syndrome: A case report and literature review.泪腺-耳-齿-指综合征:一例病例报告及文献综述
Saudi J Ophthalmol. 2022 Feb 18;35(2):152-158. doi: 10.4103/1319-4534.337856. eCollection 2021 Apr-Jun.
2
An Essential Requirement for in Pinna Extension Sheds Light on Auricle Defects in LADD Syndrome.耳廓延伸的一个基本要求揭示了LADD综合征中的耳廓缺陷。
Front Cell Dev Biol. 2020 Dec 10;8:609643. doi: 10.3389/fcell.2020.609643. eCollection 2020.
3
Lacrimo-auriculo-dento-digital syndrome: A novel mutation in a Korean family and review of literature.

本文引用的文献

1
Frequency of the branchio-oto-renal (BOR) syndrome in children with profound hearing loss.重度听力损失儿童中鳃-耳-肾(BOR)综合征的发病率。
Am J Med Genet. 1980;7(3):341-9. doi: 10.1002/ajmg.1320070316.
2
Mesoectodermal dysplasia. A new combination of anomalies.
Am J Ophthalmol. 1967 May;63(5):978-82. doi: 10.1016/0002-9394(67)90043-8.
3
The lacrimo-auriculo-dento-digital syndrome.泪腺-耳-齿-指综合征
J Pediatr. 1973 Sep;83(3):438-44. doi: 10.1016/s0022-3476(73)80268-9.
泪耳齿指综合征:一个韩国家族的新突变及文献复习。
Mol Genet Genomic Med. 2020 Oct;8(10):e1412. doi: 10.1002/mgg3.1412. Epub 2020 Jul 26.
4
Nuclear FGFR2 regulates musculoskeletal integration within the developing limb.核 FGFR2 调控发育肢体中的骨骼肌肉整合。
Dev Dyn. 2019 Mar;248(3):233-246. doi: 10.1002/dvdy.9. Epub 2019 Jan 28.
5
A requirement for Fgfr2 in middle ear development.中耳发育过程中对Fgfr2的需求。
Genesis. 2019 Jan;57(1):e23252. doi: 10.1002/dvg.23252. Epub 2018 Oct 4.
6
A Case of Lacrimo-Auriculo-Dento-Digital Syndrome with Multiple Congenitally Missing Teeth.一例伴有多颗先天性缺牙的泪腺-耳-齿-指综合征病例。
Case Rep Dent. 2016;2016:8563961. doi: 10.1155/2016/8563961. Epub 2016 Oct 10.
7
Salivary Gland Dysplasia in Fgf10 Heterozygous Mice: A New Mouse Model of Xerostomia.Fgf10 杂合小鼠的唾液腺发育异常:一种新的口干症小鼠模型。
Curr Mol Med. 2015;15(7):674-82. doi: 10.2174/1566524015666150831141307.
8
Lacrimo-auriculo-dento-digital syndrome with unilateral inner ear dysplasia and craniocervical osseous abnormalities: case report and review of literature.伴有单侧内耳发育异常及颅颈骨质异常的泪腺-耳-齿-指综合征:病例报告及文献复习
Clin Neuroradiol. 2013 Sep;23(3):221-4. doi: 10.1007/s00062-012-0170-1. Epub 2012 Aug 24.
9
Case report: Presentation of lacrimo-auriculodento- digital (LADD) syndrome in a young female patient.病例报告:一名年轻女性患者的泪腺-耳-齿-指(LADD)综合征表现
Eur Arch Paediatr Dent. 2009 Nov;10 Suppl 1:35-9. doi: 10.1007/BF03262698.
10
Split hand/split foot deformity and LADD syndrome in a family: overlap between the EEC and LADD syndromes.一个家族中的裂手/裂足畸形与LADD综合征:EEC综合征和LADD综合征之间的重叠
J Med Genet. 1993 Aug;30(8):700-3. doi: 10.1136/jmg.30.8.700.
4
Normal values for selected physical parameters: an aid to syndrome delineation.选定身体参数的正常数值:对综合征描述的辅助手段。
Birth Defects Orig Artic Ser. 1974;10(13):1-16.
5
The lacrimo-auriculo-dento-digital syndrome.
Pediatrics. 1977 Jun;59(6):927-30.