一名患有申泽尔-吉迪恩综合征的菲律宾儿童。
A Filipino Child with Schinzel-Giedion Syndrome.
作者信息
Abacan Mary Ann R, Salonga-Quimpo Rhea Angela M
机构信息
Division of Genetics, Department of Pediatrics, College of Medicine and Philippine General Hospital, University of the Philippines Manila.
Division of Pediatric Neurology, Department of Neurosciences, College of Medicine and Philippine General Hospital, University of the Philippines Manila.
出版信息
Acta Med Philipp. 2023 Apr 28;57(4):63-67. doi: 10.47895/amp.vi0.5191. eCollection 2023.
Schinzel-Giedion syndrome is a rare condition characterized by dysmorphic features, neurologic features, urogenital abnormalities, and radiographic changes. The etiology has been traced to mutations in the SETBP1 gene. We report a Filipino patient with features suggestive of Schinzel-Giedion Syndrome and the first to be confirmed through molecular testing.
施尼策尔-吉迪恩综合征是一种罕见病症，其特征为畸形特征、神经学特征、泌尿生殖系统异常及影像学改变。病因已追溯到SETBP1基因的突变。我们报告了一名具有施尼策尔-吉迪恩综合征特征的菲律宾患者，且该患者是首例通过分子检测确诊的。
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