Apert综合征1例报告

R. Chowdhury, Md. Akram Ullah, Shirin Akhter Ruhina, Fahmida Jahan Gazi, Tanuka Barua, Priyanka Chowdhury
{"title":"Apert综合征1例报告","authors":"R. Chowdhury, Md. Akram Ullah, Shirin Akhter Ruhina, Fahmida Jahan Gazi, Tanuka Barua, Priyanka Chowdhury","doi":"10.3329/cmoshmcj.v21i2.63142","DOIUrl":null,"url":null,"abstract":"Background : Apert syndrome is a rare autosomal dominant disorder characterized by craniosynostosis, facial dysmorphism and syndactyly of hands and feet. Eugene Apert in 1906 describe the syndrome acrocephalosyndactyly. \nCase Presentation : The reporting case was a 3 months old female baby presented with early fusion of all cranial bone, facial dimorphism like hypertelorism, cleft palate and syndactyly of both hands and feet. There was some bony defect also found in radioligy. \nConclusion : It is a noncurable disease but treat with multidisciplinary approach can reduce the complication and prevention can be done by genetic counselling and antenatal ultrasonography. \nChatt Maa Shi Hosp Med Coll J; Vol.21 (2); July 2022; Page 60-63 ","PeriodicalId":9788,"journal":{"name":"Chattagram Maa-O-Shishu Hospital Medical College Journal","volume":"25 1","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2022-12-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Apert Syndrome: A Case Report\",\"authors\":\"R. Chowdhury, Md. Akram Ullah, Shirin Akhter Ruhina, Fahmida Jahan Gazi, Tanuka Barua, Priyanka Chowdhury\",\"doi\":\"10.3329/cmoshmcj.v21i2.63142\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Background : Apert syndrome is a rare autosomal dominant disorder characterized by craniosynostosis, facial dysmorphism and syndactyly of hands and feet. Eugene Apert in 1906 describe the syndrome acrocephalosyndactyly. \\nCase Presentation : The reporting case was a 3 months old female baby presented with early fusion of all cranial bone, facial dimorphism like hypertelorism, cleft palate and syndactyly of both hands and feet. There was some bony defect also found in radioligy. \\nConclusion : It is a noncurable disease but treat with multidisciplinary approach can reduce the complication and prevention can be done by genetic counselling and antenatal ultrasonography. \\nChatt Maa Shi Hosp Med Coll J; Vol.21 (2); July 2022; Page 60-63 \",\"PeriodicalId\":9788,\"journal\":{\"name\":\"Chattagram Maa-O-Shishu Hospital Medical College Journal\",\"volume\":\"25 1\",\"pages\":\"\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2022-12-08\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Chattagram Maa-O-Shishu Hospital Medical College Journal\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.3329/cmoshmcj.v21i2.63142\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Chattagram Maa-O-Shishu Hospital Medical College Journal","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.3329/cmoshmcj.v21i2.63142","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

背景:Apert综合征是一种罕见的常染色体显性遗传病,以颅缝闭合、面部畸形和手脚并趾为特征。尤金·阿伯特在1906年描述了头端并指综合征。病例介绍:报告一例3个月大女婴,表现为全颅骨早期融合,面部畸形如远端过远,腭裂,双手和双脚并指。放射学检查也发现骨缺损。结论:多学科联合治疗可减少并发症,并可通过遗传咨询和产前超声检查进行预防。上海医科大学医学院;月,(2);2022年7月;60 - 63页
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
Apert Syndrome: A Case Report
Background : Apert syndrome is a rare autosomal dominant disorder characterized by craniosynostosis, facial dysmorphism and syndactyly of hands and feet. Eugene Apert in 1906 describe the syndrome acrocephalosyndactyly. Case Presentation : The reporting case was a 3 months old female baby presented with early fusion of all cranial bone, facial dimorphism like hypertelorism, cleft palate and syndactyly of both hands and feet. There was some bony defect also found in radioligy. Conclusion : It is a noncurable disease but treat with multidisciplinary approach can reduce the complication and prevention can be done by genetic counselling and antenatal ultrasonography. Chatt Maa Shi Hosp Med Coll J; Vol.21 (2); July 2022; Page 60-63 
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
Clinical Predictors of Sodium Disturbance in Children Presenting with Acute Watery Diarrhea in a Tertiary Hospital of Bangladesh Advanced Abdominal Pregnancy of 32 Weeks with Alive Baby: A Rare Event Cognitive Status In Thalassemia Editor’s Role on Plagiarism Measles Infection and Vaccination Status against Measles in Children during 2019-2020: A Hospital Based Study in Chattogram
×
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