介绍一例Aarskog-Scott综合征

dnshnmh Srm Pub Date : 2020-02-01 DOI:10.52547/sjrm.4.4.194
B. Bozorgmehr, Mohammad Reza Nateghi (MD, MPH), Dorin Tajbakhsh
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引用次数: 0

摘要

1伊朗德黑兰伊朗医科大学萨雷姆妇女医院萨雷姆生育和不孕研究中心2加拿大多伦多约克大学简介:Aarskog-Scott综合征是一种罕见的X连锁疾病,表现为面部、骨骼和生殖器异常。它也被称为面生殖发育不良(FGDY,OMIM NO:305400)和面指生殖器综合征。患者信息:具有相同特征的7岁男孩,曾被转诊进行基因咨询、诊断、了解复发风险并寻求建议。结论:其主要特征为身材矮小、身高过大、手脚短、阴囊披肩。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Introducing a Case of Aarskog-Scott Syndrome
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.
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