Madiraju Gunashekhar, Mohammad Shahul Hameed, Syed Kamran Bokhari
{"title":"鲁宾斯坦-泰比综合征的口腔和牙齿表现:罕见病例报告。","authors":"Madiraju Gunashekhar, Mohammad Shahul Hameed, Syed Kamran Bokhari","doi":"10.1308/135576112798990773","DOIUrl":null,"url":null,"abstract":"<p><p>Rubinstein-Taybi syndrome, or broad thumb-hallux syndrome, is a well-defined rare congenital disorder characterised by postnatal growth deficiency, craniofacial dysmorphism, broad thumbs and great toes, and mental retardation (intellectual disability). Occurrence may be either sporadic or through autosomal dominant inheritance. Reports of Rubinstein-Taybi syndrome are scarce in the literature. This case report describes the oral and dentofacial findings of Rubinstein-Taybi syndrome affecting a 13-year-old Indian female, including the uncommon presence of talon cusps and an unerupted supernumerary tooth.</p>","PeriodicalId":79454,"journal":{"name":"Primary dental care : journal of the Faculty of General Dental Practitioners (UK)","volume":"19 1","pages":"35-8"},"PeriodicalIF":0.0000,"publicationDate":"2012-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1308/135576112798990773","citationCount":"10","resultStr":"{\"title\":\"Oral and dental manifestations in Rubinstein-Taybi syndrome: report of a rare case.\",\"authors\":\"Madiraju Gunashekhar, Mohammad Shahul Hameed, Syed Kamran Bokhari\",\"doi\":\"10.1308/135576112798990773\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Rubinstein-Taybi syndrome, or broad thumb-hallux syndrome, is a well-defined rare congenital disorder characterised by postnatal growth deficiency, craniofacial dysmorphism, broad thumbs and great toes, and mental retardation (intellectual disability). Occurrence may be either sporadic or through autosomal dominant inheritance. Reports of Rubinstein-Taybi syndrome are scarce in the literature. This case report describes the oral and dentofacial findings of Rubinstein-Taybi syndrome affecting a 13-year-old Indian female, including the uncommon presence of talon cusps and an unerupted supernumerary tooth.</p>\",\"PeriodicalId\":79454,\"journal\":{\"name\":\"Primary dental care : journal of the Faculty of General Dental Practitioners (UK)\",\"volume\":\"19 1\",\"pages\":\"35-8\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2012-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://sci-hub-pdf.com/10.1308/135576112798990773\",\"citationCount\":\"10\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Primary dental care : journal of the Faculty of General Dental Practitioners (UK)\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1308/135576112798990773\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Primary dental care : journal of the Faculty of General Dental Practitioners (UK)","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1308/135576112798990773","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Oral and dental manifestations in Rubinstein-Taybi syndrome: report of a rare case.
Rubinstein-Taybi syndrome, or broad thumb-hallux syndrome, is a well-defined rare congenital disorder characterised by postnatal growth deficiency, craniofacial dysmorphism, broad thumbs and great toes, and mental retardation (intellectual disability). Occurrence may be either sporadic or through autosomal dominant inheritance. Reports of Rubinstein-Taybi syndrome are scarce in the literature. This case report describes the oral and dentofacial findings of Rubinstein-Taybi syndrome affecting a 13-year-old Indian female, including the uncommon presence of talon cusps and an unerupted supernumerary tooth.