外胚层发育不良裂裂综合征

Khooshbu Gayen, Anisha Bag, S. Shirolkar, Rajib Sikdar, S. Mukhopadhyay, S. Sarkar
{"title":"外胚层发育不良裂裂综合征","authors":"Khooshbu Gayen, Anisha Bag, S. Shirolkar, Rajib Sikdar, S. Mukhopadhyay, S. Sarkar","doi":"10.4103/njecp.njecp_19_21","DOIUrl":null,"url":null,"abstract":"Ectrodactyly–ectodermal dysplasia–clefting (EEC) syndrome is a rare hereditary congenital defect characterized by a triad of disorders such as ectodermal dysplasia, malformed extremities, and cleft lip and/or palate. We report the case of a 3-month-old girl child with clinical signs of EEC syndrome and offer valuable information into current knowledge about this syndrome. The symptoms of EEC display diversity in both extension and expression. Early diagnosis and management of clinical manifestations associated with this syndrome presents a unique challenge due to the paucity of documents in the literature.","PeriodicalId":19420,"journal":{"name":"Nigerian Journal of Experimental and Clinical Biosciences","volume":"23 1","pages":"202 - 205"},"PeriodicalIF":0.0000,"publicationDate":"2021-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Ectrodactyly–ectodermal dysplasia–clefting syndrome\",\"authors\":\"Khooshbu Gayen, Anisha Bag, S. Shirolkar, Rajib Sikdar, S. Mukhopadhyay, S. Sarkar\",\"doi\":\"10.4103/njecp.njecp_19_21\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Ectrodactyly–ectodermal dysplasia–clefting (EEC) syndrome is a rare hereditary congenital defect characterized by a triad of disorders such as ectodermal dysplasia, malformed extremities, and cleft lip and/or palate. We report the case of a 3-month-old girl child with clinical signs of EEC syndrome and offer valuable information into current knowledge about this syndrome. The symptoms of EEC display diversity in both extension and expression. Early diagnosis and management of clinical manifestations associated with this syndrome presents a unique challenge due to the paucity of documents in the literature.\",\"PeriodicalId\":19420,\"journal\":{\"name\":\"Nigerian Journal of Experimental and Clinical Biosciences\",\"volume\":\"23 1\",\"pages\":\"202 - 205\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2021-07-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Nigerian Journal of Experimental and Clinical Biosciences\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.4103/njecp.njecp_19_21\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Nigerian Journal of Experimental and Clinical Biosciences","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.4103/njecp.njecp_19_21","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0

摘要

电趾-外胚层发育不良-裂(EEC)综合征是一种罕见的遗传性先天性缺陷,其特征是三种疾病,如外胚层发育不良,四肢畸形,唇裂和/或腭裂。我们报告的情况下,3个月大的女婴的临床症状EEC综合征,并提供有价值的信息,为目前的知识,这种综合征。EEC的症状表现出扩展和表达的多样性。由于文献文献的缺乏,早期诊断和管理与该综合征相关的临床表现提出了一个独特的挑战。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
查看原文
分享 分享
微信好友 朋友圈 QQ好友 复制链接
本刊更多论文
Ectrodactyly–ectodermal dysplasia–clefting syndrome
Ectrodactyly–ectodermal dysplasia–clefting (EEC) syndrome is a rare hereditary congenital defect characterized by a triad of disorders such as ectodermal dysplasia, malformed extremities, and cleft lip and/or palate. We report the case of a 3-month-old girl child with clinical signs of EEC syndrome and offer valuable information into current knowledge about this syndrome. The symptoms of EEC display diversity in both extension and expression. Early diagnosis and management of clinical manifestations associated with this syndrome presents a unique challenge due to the paucity of documents in the literature.
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
0
期刊最新文献
In vitro analysis and molecular docking of gas chromatography-mass spectroscopy fingerprints of polyherbal mixture reveals significant antidiabetic miture Relationship between ABO blood group phenotypes and some cardiovascular risk factors among undergraduate students in Kano Nigeria Green Coconut Water Supplementation Attenuates Flutamide-induced Testicular Damage in Male Prepubertal Wistar Rats Epidermal inclusion cysts of the clitoris following female genital mutilation: Case series and review of literature Methanolic leaf extract of Dryopteris dilatata reverses kidney injury on streptozotocin-induced diabetic male wistar rats
×
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
现在去查看 取消
×
提示
确定
0
微信
客服QQ
Book学术公众号 扫码关注我们
反馈
×
意见反馈
请填写您的意见或建议
请填写您的手机或邮箱
已复制链接
已复制链接
快去分享给好友吧!
我知道了
×
扫码分享
扫码分享
Book学术官方微信
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术
文献互助 智能选刊 最新文献 互助须知 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 Book学术 All rights reserved.
ghs 京公网安备 11010802042870号 京ICP备2023020795号-1