{"title":"Enamel Renal Gingival Syndrome in an Adolescent.","authors":"Rahul Koul, Dempsy Chengappa, Vijay Prakash Mathur, Thongam Ajitkumar Singh, Sukhbir Singh Chopra","doi":"","DOIUrl":null,"url":null,"abstract":"<p><p>Enamel renal gingival syndrome is a rare clinical condition characterized by the presence of amelogenesis imperfecta hypoplastic type, gingival fibromatosis and delayed tooth eruption, in addition to nephrocalcinosis with normal blood calcium levels. It is inherited as an autosomal recessive trait caused by mutations in the FAM20A gene located on chromosome 17q24.2. The purpose of this report is to describe a case of enamel renal gingival syndrome and discuss its distinct features and management.</p>","PeriodicalId":51605,"journal":{"name":"JOURNAL OF DENTISTRY FOR CHILDREN","volume":null,"pages":null},"PeriodicalIF":0.4000,"publicationDate":"2024-01-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"JOURNAL OF DENTISTRY FOR CHILDREN","FirstCategoryId":"1085","ListUrlMain":"","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"DENTISTRY, ORAL SURGERY & MEDICINE","Score":null,"Total":0}
引用次数: 0
Abstract
Enamel renal gingival syndrome is a rare clinical condition characterized by the presence of amelogenesis imperfecta hypoplastic type, gingival fibromatosis and delayed tooth eruption, in addition to nephrocalcinosis with normal blood calcium levels. It is inherited as an autosomal recessive trait caused by mutations in the FAM20A gene located on chromosome 17q24.2. The purpose of this report is to describe a case of enamel renal gingival syndrome and discuss its distinct features and management.
期刊介绍：
Acquired after the merger between the American Society of Dentistry for Children and the American Academy of Pediatric Dentistry in 2002, the Journal of Dentistry for Children (JDC) is an internationally renowned journal whose publishing dates back to 1934. Published three times a year, JDC promotes the practice, education and research specifically related to the specialty of pediatric dentistry. It covers a wide range of topics related to the clinical care of children, from clinical techniques of daily importance to the practitioner, to studies on child behavior and growth and development. JDC also provides information on the physical, psychological and emotional conditions of children as they relate to and affect their dental health.
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