Fazil Ka, R. Castelino, S. Babu, P. Balan, Supriya Bhat
{"title":"马凡氏综合征1例报告并文献复习","authors":"Fazil Ka, R. Castelino, S. Babu, P. Balan, Supriya Bhat","doi":"10.5455/JTOMC.2016.12.126","DOIUrl":null,"url":null,"abstract":"Marfan syndrome is a systemic condition involving the connective tissue. The syndrome is inherited by autosomal dominant trait. Affected persons carry a mutation in the gene that encodes fibrillin-1 which is a connective tissue protein. The incidence of this syndrome is one in ten thousand live births with an equal predilection for both the genders. The syndrome is a collection of generalized manifestations involving the skeleton, eyes, heart, lungs, and the large blood vessels. The individual affected by this syndrome is usually tall and lean with various systemic abnormalities. A case of Marfan syndrome is reported here with review of","PeriodicalId":17427,"journal":{"name":"Journal of Turgut Ozal Medical Center","volume":"32 1","pages":"203-206"},"PeriodicalIF":0.0000,"publicationDate":"2017-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Marfan syndrome: A case report with review of literature -\",\"authors\":\"Fazil Ka, R. Castelino, S. Babu, P. Balan, Supriya Bhat\",\"doi\":\"10.5455/JTOMC.2016.12.126\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Marfan syndrome is a systemic condition involving the connective tissue. The syndrome is inherited by autosomal dominant trait. Affected persons carry a mutation in the gene that encodes fibrillin-1 which is a connective tissue protein. The incidence of this syndrome is one in ten thousand live births with an equal predilection for both the genders. The syndrome is a collection of generalized manifestations involving the skeleton, eyes, heart, lungs, and the large blood vessels. The individual affected by this syndrome is usually tall and lean with various systemic abnormalities. A case of Marfan syndrome is reported here with review of\",\"PeriodicalId\":17427,\"journal\":{\"name\":\"Journal of Turgut Ozal Medical Center\",\"volume\":\"32 1\",\"pages\":\"203-206\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2017-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of Turgut Ozal Medical Center\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.5455/JTOMC.2016.12.126\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Turgut Ozal Medical Center","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.5455/JTOMC.2016.12.126","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Marfan syndrome: A case report with review of literature -
Marfan syndrome is a systemic condition involving the connective tissue. The syndrome is inherited by autosomal dominant trait. Affected persons carry a mutation in the gene that encodes fibrillin-1 which is a connective tissue protein. The incidence of this syndrome is one in ten thousand live births with an equal predilection for both the genders. The syndrome is a collection of generalized manifestations involving the skeleton, eyes, heart, lungs, and the large blood vessels. The individual affected by this syndrome is usually tall and lean with various systemic abnormalities. A case of Marfan syndrome is reported here with review of