{"title":"导航复杂性:一个埃利斯-范·克雷费尔德综合征的儿科病例。","authors":"Mridula Goswami, Riya Marie Johnson, Rimshheanam","doi":"10.4103/jfmpc.jfmpc_184_25","DOIUrl":null,"url":null,"abstract":"<p><p>Ellis-van Creveld (EVC) syndrome is a rare autosomal recessive disorder characterized by congenital abnormalities such as ectodermal dysplasia, post-axial polydactyly, chondrodysplasia, and congenital heart defects. The syndrome presents unique challenges in pediatric dentistry due to its diverse oral manifestations and the need for multidisciplinary care. This case report presents a 12-year-old male with EVC syndrome presented with bilateral polydactyly, a syndromic facial appearance, and congenital heart defects. Clinical and radiographic evaluation revealed several missing and malformed teeth. A comprehensive treatment plan was formulated which included prosthetic rehabilitation with removable partial dentures. Regular follow-ups were conducted to assess overall oral health. Multidisciplinary management, including dental, cardiac, and psychological care, is crucial for optimizing patient outcomes. Early diagnosis and treatment are crucial for improving oral health, function, and quality of life, thereby enhancing the psychological well-being and self-esteem of affected children.</p>","PeriodicalId":15856,"journal":{"name":"Journal of Family Medicine and Primary Care","volume":"14 8","pages":"3578-3581"},"PeriodicalIF":1.0000,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12488175/pdf/","citationCount":"0","resultStr":"{\"title\":\"Navigating complexities: A pediatric case of Ellis-van Creveld syndrome.\",\"authors\":\"Mridula Goswami, Riya Marie Johnson, Rimshheanam\",\"doi\":\"10.4103/jfmpc.jfmpc_184_25\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Ellis-van Creveld (EVC) syndrome is a rare autosomal recessive disorder characterized by congenital abnormalities such as ectodermal dysplasia, post-axial polydactyly, chondrodysplasia, and congenital heart defects. The syndrome presents unique challenges in pediatric dentistry due to its diverse oral manifestations and the need for multidisciplinary care. This case report presents a 12-year-old male with EVC syndrome presented with bilateral polydactyly, a syndromic facial appearance, and congenital heart defects. Clinical and radiographic evaluation revealed several missing and malformed teeth. A comprehensive treatment plan was formulated which included prosthetic rehabilitation with removable partial dentures. Regular follow-ups were conducted to assess overall oral health. Multidisciplinary management, including dental, cardiac, and psychological care, is crucial for optimizing patient outcomes. Early diagnosis and treatment are crucial for improving oral health, function, and quality of life, thereby enhancing the psychological well-being and self-esteem of affected children.</p>\",\"PeriodicalId\":15856,\"journal\":{\"name\":\"Journal of Family Medicine and Primary Care\",\"volume\":\"14 8\",\"pages\":\"3578-3581\"},\"PeriodicalIF\":1.0000,\"publicationDate\":\"2025-08-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12488175/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of Family Medicine and Primary Care\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.4103/jfmpc.jfmpc_184_25\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2025/9/24 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q4\",\"JCRName\":\"PRIMARY HEALTH CARE\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Family Medicine and Primary Care","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.4103/jfmpc.jfmpc_184_25","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2025/9/24 0:00:00","PubModel":"Epub","JCR":"Q4","JCRName":"PRIMARY HEALTH CARE","Score":null,"Total":0}
Navigating complexities: A pediatric case of Ellis-van Creveld syndrome.
Ellis-van Creveld (EVC) syndrome is a rare autosomal recessive disorder characterized by congenital abnormalities such as ectodermal dysplasia, post-axial polydactyly, chondrodysplasia, and congenital heart defects. The syndrome presents unique challenges in pediatric dentistry due to its diverse oral manifestations and the need for multidisciplinary care. This case report presents a 12-year-old male with EVC syndrome presented with bilateral polydactyly, a syndromic facial appearance, and congenital heart defects. Clinical and radiographic evaluation revealed several missing and malformed teeth. A comprehensive treatment plan was formulated which included prosthetic rehabilitation with removable partial dentures. Regular follow-ups were conducted to assess overall oral health. Multidisciplinary management, including dental, cardiac, and psychological care, is crucial for optimizing patient outcomes. Early diagnosis and treatment are crucial for improving oral health, function, and quality of life, thereby enhancing the psychological well-being and self-esteem of affected children.