{"title":"特纳综合征表型在新生儿轻度症状并伴有新生儿黄疸的早期诊断","authors":"Halyna Bulak","doi":"10.31031/rpn.2021.05.000612","DOIUrl":null,"url":null,"abstract":"Turner syndrome is a rare genetic disorder that occurs only in girls. It can cause problems ranging from short height to heart defects. Sometimes, the symptoms are so mild that it goes undiagnosed until a female is a teen or young adult. That’s why, early diagnosis plays a crucial role in further child’s development. A lot of health problems affecting girls with Turner syndrome can be managed with treatment. This article represents a clinical case of Turner syndrome phenotype diagnosed on its early stage.","PeriodicalId":153075,"journal":{"name":"Research in Pediatrics & Neonatology","volume":"10 1","pages":"0"},"PeriodicalIF":0.0000,"publicationDate":"2021-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Early diagnosis of Turner Syndrome Phenotype in a Newborn With Mild Symptoms and Concomitant Neonatal Jaundice\",\"authors\":\"Halyna Bulak\",\"doi\":\"10.31031/rpn.2021.05.000612\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Turner syndrome is a rare genetic disorder that occurs only in girls. It can cause problems ranging from short height to heart defects. Sometimes, the symptoms are so mild that it goes undiagnosed until a female is a teen or young adult. That’s why, early diagnosis plays a crucial role in further child’s development. A lot of health problems affecting girls with Turner syndrome can be managed with treatment. This article represents a clinical case of Turner syndrome phenotype diagnosed on its early stage.\",\"PeriodicalId\":153075,\"journal\":{\"name\":\"Research in Pediatrics & Neonatology\",\"volume\":\"10 1\",\"pages\":\"0\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2021-02-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Research in Pediatrics & Neonatology\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.31031/rpn.2021.05.000612\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Research in Pediatrics & Neonatology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.31031/rpn.2021.05.000612","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Early diagnosis of Turner Syndrome Phenotype in a Newborn With Mild Symptoms and Concomitant Neonatal Jaundice
Turner syndrome is a rare genetic disorder that occurs only in girls. It can cause problems ranging from short height to heart defects. Sometimes, the symptoms are so mild that it goes undiagnosed until a female is a teen or young adult. That’s why, early diagnosis plays a crucial role in further child’s development. A lot of health problems affecting girls with Turner syndrome can be managed with treatment. This article represents a clinical case of Turner syndrome phenotype diagnosed on its early stage.