先天性失智伴短指畸形伴新型单侧先天性舌下神经麻痹和鹿角形肾结石

IF 0.2 Q4 DERMATOLOGY
Anita Marak, Ellis Khawbung, Shakeel Jabbar, B. Shakthi
{"title":"先天性失智伴短指畸形伴新型单侧先天性舌下神经麻痹和鹿角形肾结石","authors":"Anita Marak, Ellis Khawbung, Shakeel Jabbar, B. Shakthi","doi":"10.4103/ijpd.ijpd_125_21","DOIUrl":null,"url":null,"abstract":"Congenital anonychia is a relatively rare abnormality of nail development affecting all or some of the finger and toe nails, characterized by either complete absence of nails or hypoplasia of nails. We report a rare case of congenital anonychia with brachydactyly with unique congenital abnormalities of heart-shaped tongue, congenital hypoglossal nerve palsy, and staghorn calculus. To our knowledge, these associations have never been described before and do not fall under any known syndromic entity.","PeriodicalId":13275,"journal":{"name":"Indian Journal of Paediatric Dermatology","volume":"23 1","pages":"314 - 317"},"PeriodicalIF":0.2000,"publicationDate":"2022-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Congenital anonychia with brachydactyly with novel, unilateral congenital hypoglossal nerve palsy and staghorn renal calculus\",\"authors\":\"Anita Marak, Ellis Khawbung, Shakeel Jabbar, B. Shakthi\",\"doi\":\"10.4103/ijpd.ijpd_125_21\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Congenital anonychia is a relatively rare abnormality of nail development affecting all or some of the finger and toe nails, characterized by either complete absence of nails or hypoplasia of nails. We report a rare case of congenital anonychia with brachydactyly with unique congenital abnormalities of heart-shaped tongue, congenital hypoglossal nerve palsy, and staghorn calculus. To our knowledge, these associations have never been described before and do not fall under any known syndromic entity.\",\"PeriodicalId\":13275,\"journal\":{\"name\":\"Indian Journal of Paediatric Dermatology\",\"volume\":\"23 1\",\"pages\":\"314 - 317\"},\"PeriodicalIF\":0.2000,\"publicationDate\":\"2022-10-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Indian Journal of Paediatric Dermatology\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.4103/ijpd.ijpd_125_21\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"DERMATOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Indian Journal of Paediatric Dermatology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.4103/ijpd.ijpd_125_21","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"DERMATOLOGY","Score":null,"Total":0}
引用次数: 0

摘要

先天性无甲症是一种相对罕见的指甲发育异常,影响所有或部分手指和脚趾指甲,其特征是指甲完全缺失或指甲发育不全。我们报告了一例罕见的先天性失智伴短指畸形,伴有独特的先天性心型舌异常、先天性舌下神经麻痹和鹿角结石。据我们所知,这些关联以前从未被描述过,也不属于任何已知的综合征实体。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Congenital anonychia with brachydactyly with novel, unilateral congenital hypoglossal nerve palsy and staghorn renal calculus
Congenital anonychia is a relatively rare abnormality of nail development affecting all or some of the finger and toe nails, characterized by either complete absence of nails or hypoplasia of nails. We report a rare case of congenital anonychia with brachydactyly with unique congenital abnormalities of heart-shaped tongue, congenital hypoglossal nerve palsy, and staghorn calculus. To our knowledge, these associations have never been described before and do not fall under any known syndromic entity.
求助全文
通过发布文献求助,成功后即可免费获取论文全文。 去求助
来源期刊
自引率
0.00%
发文量
27
审稿时长
25 weeks
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
copy
已复制链接
快去分享给好友吧!
我知道了
右上角分享
点击右上角分享
0
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术官方微信