B. Bozorgmehr, Mohammad Reza Nateghi (MD, MPH), Dorin Tajbakhsh
{"title":"介绍一例Aarskog-Scott综合征","authors":"B. Bozorgmehr, Mohammad Reza Nateghi (MD, MPH), Dorin Tajbakhsh","doi":"10.52547/sjrm.4.4.194","DOIUrl":null,"url":null,"abstract":"1 Sarem Fertility and Infertility Research Center (SAFIR), Sarem Women’s Hospital, Iran University of Medical Science (IUMS), Tehran, Iran 2 York University, Toronto, Canada Introduction: Aarskog-Scott syndrome is a rare X-linked disorder, charecterized by facial, skeletal and genital anomalies. It is also known as faciogenital dysplasia (FGDY, OMIM NO:305400) and facio-digito-genital syndrome. Patient Information: 7 years old boy with the same features, whom had been referred for genetic counseling, diagnosis, knowing the recurrence risk and seeking advice. Conclusion: The main features are short stature, hypertelorism, short hands and feet, and shawl scrotum.","PeriodicalId":33200,"journal":{"name":"dnshnmh Srm","volume":" ","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2020-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Introducing a Case of Aarskog-Scott Syndrome\",\"authors\":\"B. Bozorgmehr, Mohammad Reza Nateghi (MD, MPH), Dorin Tajbakhsh\",\"doi\":\"10.52547/sjrm.4.4.194\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"1 Sarem Fertility and Infertility Research Center (SAFIR), Sarem Women’s Hospital, Iran University of Medical Science (IUMS), Tehran, Iran 2 York University, Toronto, Canada Introduction: Aarskog-Scott syndrome is a rare X-linked disorder, charecterized by facial, skeletal and genital anomalies. It is also known as faciogenital dysplasia (FGDY, OMIM NO:305400) and facio-digito-genital syndrome. Patient Information: 7 years old boy with the same features, whom had been referred for genetic counseling, diagnosis, knowing the recurrence risk and seeking advice. Conclusion: The main features are short stature, hypertelorism, short hands and feet, and shawl scrotum.\",\"PeriodicalId\":33200,\"journal\":{\"name\":\"dnshnmh Srm\",\"volume\":\" \",\"pages\":\"\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2020-02-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"dnshnmh Srm\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.52547/sjrm.4.4.194\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"dnshnmh Srm","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.52547/sjrm.4.4.194","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
1 Sarem Fertility and Infertility Research Center (SAFIR), Sarem Women’s Hospital, Iran University of Medical Science (IUMS), Tehran, Iran 2 York University, Toronto, Canada Introduction: Aarskog-Scott syndrome is a rare X-linked disorder, charecterized by facial, skeletal and genital anomalies. It is also known as faciogenital dysplasia (FGDY, OMIM NO:305400) and facio-digito-genital syndrome. Patient Information: 7 years old boy with the same features, whom had been referred for genetic counseling, diagnosis, knowing the recurrence risk and seeking advice. Conclusion: The main features are short stature, hypertelorism, short hands and feet, and shawl scrotum.