Joseph Rath, Kennedy Forest, Allison Hemmer, Matthew Simmons
{"title":"过度生长症:索托斯综合征病例及相关疾病概述。","authors":"Joseph Rath, Kennedy Forest, Allison Hemmer, Matthew Simmons","doi":"","DOIUrl":null,"url":null,"abstract":"<p><p>Sotos syndrome is an uncommon congenital overgrowth syndrome characterized by excessive growth in childhood, learning disabilities, and distinct facial features. We present the case of a young male who appeared to have the classic presentation of Sotos syndrome despite a normal genetic workup. Additionally, we present a brief review of overgrowth syndromes in order to highlight potential challenges differentiating these syndromes in clinical practice. Many overgrowth disorders often have similar presentation to Sotos syndrome, so it is important to recognize and identify specific clinical features and perform genetic testing to rule out other disorders, confirm a diagnosis, and choose the appropriate management for patients.</p>","PeriodicalId":39219,"journal":{"name":"South Dakota medicine : the journal of the South Dakota State Medical Association","volume":"77 3","pages":"129-133"},"PeriodicalIF":0.0000,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Overgrowth Disorders: A Case of Sotos Syndrome and Overview of Related Disorders.\",\"authors\":\"Joseph Rath, Kennedy Forest, Allison Hemmer, Matthew Simmons\",\"doi\":\"\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Sotos syndrome is an uncommon congenital overgrowth syndrome characterized by excessive growth in childhood, learning disabilities, and distinct facial features. We present the case of a young male who appeared to have the classic presentation of Sotos syndrome despite a normal genetic workup. Additionally, we present a brief review of overgrowth syndromes in order to highlight potential challenges differentiating these syndromes in clinical practice. Many overgrowth disorders often have similar presentation to Sotos syndrome, so it is important to recognize and identify specific clinical features and perform genetic testing to rule out other disorders, confirm a diagnosis, and choose the appropriate management for patients.</p>\",\"PeriodicalId\":39219,\"journal\":{\"name\":\"South Dakota medicine : the journal of the South Dakota State Medical Association\",\"volume\":\"77 3\",\"pages\":\"129-133\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2024-03-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"South Dakota medicine : the journal of the South Dakota State Medical Association\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"Medicine\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"South Dakota medicine : the journal of the South Dakota State Medical Association","FirstCategoryId":"1085","ListUrlMain":"","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"Medicine","Score":null,"Total":0}
Overgrowth Disorders: A Case of Sotos Syndrome and Overview of Related Disorders.
Sotos syndrome is an uncommon congenital overgrowth syndrome characterized by excessive growth in childhood, learning disabilities, and distinct facial features. We present the case of a young male who appeared to have the classic presentation of Sotos syndrome despite a normal genetic workup. Additionally, we present a brief review of overgrowth syndromes in order to highlight potential challenges differentiating these syndromes in clinical practice. Many overgrowth disorders often have similar presentation to Sotos syndrome, so it is important to recognize and identify specific clinical features and perform genetic testing to rule out other disorders, confirm a diagnosis, and choose the appropriate management for patients.