{"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}
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’.