F. Pérez Alvarez, S. Martínez Santana, C. Rodríguez
{"title":"[Ellis-Van Creveld syndrome].","authors":"F. Pérez Alvarez, S. Martínez Santana, C. Rodríguez","doi":"10.32388/y9hqdv","DOIUrl":null,"url":null,"abstract":"Ellis-van Creveld syndrome is an inherited disorder of bone growth that results in very short stature (dwarfism). People with this condition have particularly short forearms and lower legs and a narrow chest with short ribs. Ellis-van Creveld syndrome is also characterized by the presence of extra fingers and toes (polydactyly), malformed fingernails and toenails, and dental abnormalities. More than half of affected individuals are born with a heart defect, which can cause serious or life-threatening health problems.","PeriodicalId":7778,"journal":{"name":"Anales Espanoles De Pediatria","volume":"360 1","pages":"223-8"},"PeriodicalIF":0.0000,"publicationDate":"2020-02-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Anales Espanoles De Pediatria","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.32388/y9hqdv","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0
Abstract
Ellis-van Creveld syndrome is an inherited disorder of bone growth that results in very short stature (dwarfism). People with this condition have particularly short forearms and lower legs and a narrow chest with short ribs. Ellis-van Creveld syndrome is also characterized by the presence of extra fingers and toes (polydactyly), malformed fingernails and toenails, and dental abnormalities. More than half of affected individuals are born with a heart defect, which can cause serious or life-threatening health problems.