1例“3MC综合征”的表型分析并文献复习

Rani Roy Soma, Kader Md. Sazzad
{"title":"1例“3MC综合征”的表型分析并文献复习","authors":"Rani Roy Soma, Kader Md. Sazzad","doi":"10.54646/bijcroo.014","DOIUrl":null,"url":null,"abstract":"3MC syndrome is a very rare entity. It’s prevalence is unknown but most cases are reported from Middle East. First case was reported in 1978 and named as Michel syndrome and recently with other three syndromes together these syndromes are named as 3 MC syndrome. All are autosomal recessive disorder and reported from both consanguineous and non- consanguineous parents. Here we phenotypically analyzed a case presented with the features of blepharophimosis syndrome associated with craniosynostosis suggestive of Mischel syndrome which is a part of ‘3 MC syndrome’.","PeriodicalId":101752,"journal":{"name":"BOHR International Journal of Current Research in Optometry and Ophthalmology","volume":"27 1","pages":"0"},"PeriodicalIF":0.0000,"publicationDate":"1900-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Phenotypic Analysis of A Case of ‘3MC Syndrome’ with Review of Literature\",\"authors\":\"Rani Roy Soma, Kader Md. Sazzad\",\"doi\":\"10.54646/bijcroo.014\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"3MC syndrome is a very rare entity. It’s prevalence is unknown but most cases are reported from Middle East. First case was reported in 1978 and named as Michel syndrome and recently with other three syndromes together these syndromes are named as 3 MC syndrome. All are autosomal recessive disorder and reported from both consanguineous and non- consanguineous parents. Here we phenotypically analyzed a case presented with the features of blepharophimosis syndrome associated with craniosynostosis suggestive of Mischel syndrome which is a part of ‘3 MC syndrome’.\",\"PeriodicalId\":101752,\"journal\":{\"name\":\"BOHR International Journal of Current Research in Optometry and Ophthalmology\",\"volume\":\"27 1\",\"pages\":\"0\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"1900-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"BOHR International Journal of Current Research in Optometry and Ophthalmology\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.54646/bijcroo.014\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"BOHR International Journal of Current Research in Optometry and Ophthalmology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.54646/bijcroo.014","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

3MC综合征是一种非常罕见的疾病。它的流行程度尚不清楚,但大多数病例报告来自中东。首例病例于1978年报道,并命名为米歇尔综合征,最近与其他三种综合征一起被命名为3mc综合征。所有病例均为常染色体隐性遗传病,据报道均来自近亲和非近亲父母。在这里,我们从表型上分析了一个病例,该病例表现为睑下垂综合征合并颅缝闭锁,提示米歇尔综合征,这是“3mc综合征”的一部分。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Phenotypic Analysis of A Case of ‘3MC Syndrome’ with Review of Literature
3MC syndrome is a very rare entity. It’s prevalence is unknown but most cases are reported from Middle East. First case was reported in 1978 and named as Michel syndrome and recently with other three syndromes together these syndromes are named as 3 MC syndrome. All are autosomal recessive disorder and reported from both consanguineous and non- consanguineous parents. Here we phenotypically analyzed a case presented with the features of blepharophimosis syndrome associated with craniosynostosis suggestive of Mischel syndrome which is a part of ‘3 MC syndrome’.
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
×
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