Khooshbu Gayen, Anisha Bag, S. Shirolkar, Rajib Sikdar, S. Mukhopadhyay, S. Sarkar
{"title":"外胚层发育不良裂裂综合征","authors":"Khooshbu Gayen, Anisha Bag, S. Shirolkar, Rajib Sikdar, S. Mukhopadhyay, S. Sarkar","doi":"10.4103/njecp.njecp_19_21","DOIUrl":null,"url":null,"abstract":"Ectrodactyly–ectodermal dysplasia–clefting (EEC) syndrome is a rare hereditary congenital defect characterized by a triad of disorders such as ectodermal dysplasia, malformed extremities, and cleft lip and/or palate. We report the case of a 3-month-old girl child with clinical signs of EEC syndrome and offer valuable information into current knowledge about this syndrome. The symptoms of EEC display diversity in both extension and expression. Early diagnosis and management of clinical manifestations associated with this syndrome presents a unique challenge due to the paucity of documents in the literature.","PeriodicalId":19420,"journal":{"name":"Nigerian Journal of Experimental and Clinical Biosciences","volume":"23 1","pages":"202 - 205"},"PeriodicalIF":0.0000,"publicationDate":"2021-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Ectrodactyly–ectodermal dysplasia–clefting syndrome\",\"authors\":\"Khooshbu Gayen, Anisha Bag, S. Shirolkar, Rajib Sikdar, S. Mukhopadhyay, S. Sarkar\",\"doi\":\"10.4103/njecp.njecp_19_21\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Ectrodactyly–ectodermal dysplasia–clefting (EEC) syndrome is a rare hereditary congenital defect characterized by a triad of disorders such as ectodermal dysplasia, malformed extremities, and cleft lip and/or palate. We report the case of a 3-month-old girl child with clinical signs of EEC syndrome and offer valuable information into current knowledge about this syndrome. The symptoms of EEC display diversity in both extension and expression. Early diagnosis and management of clinical manifestations associated with this syndrome presents a unique challenge due to the paucity of documents in the literature.\",\"PeriodicalId\":19420,\"journal\":{\"name\":\"Nigerian Journal of Experimental and Clinical Biosciences\",\"volume\":\"23 1\",\"pages\":\"202 - 205\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2021-07-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Nigerian Journal of Experimental and Clinical Biosciences\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.4103/njecp.njecp_19_21\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Nigerian Journal of Experimental and Clinical Biosciences","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.4103/njecp.njecp_19_21","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Ectrodactyly–ectodermal dysplasia–clefting (EEC) syndrome is a rare hereditary congenital defect characterized by a triad of disorders such as ectodermal dysplasia, malformed extremities, and cleft lip and/or palate. We report the case of a 3-month-old girl child with clinical signs of EEC syndrome and offer valuable information into current knowledge about this syndrome. The symptoms of EEC display diversity in both extension and expression. Early diagnosis and management of clinical manifestations associated with this syndrome presents a unique challenge due to the paucity of documents in the literature.