维德曼-施泰纳综合征：神经发育迟缓及畸形特征的一种罕见鉴别诊断。
Wiedemann-Steiner Syndrome: A Rare Differential Diagnosis of Neurodevelopmental Delay and Dysmorphic Features.
作者信息
Carman Kursat Bora, Kaplan Emre, Aslan Cefa Nil, Kocagil Sinem, Cilinigr Oguz, Yarar Coskun
机构信息
Department of Pediatric Neurology, Faculty of Medicine, Eskisehir Osmangazi University, Eskisehir, Turkey.
Department of Medical Genetics, Faculty of Medicine, Eskisehir Osmangazi University, Eskisehir, Turkey.
出版信息
J Pediatr Genet. 2020 Sep 23;11(2):162-164. doi: 10.1055/s-0040-1716709. eCollection 2022 Jun.
Abstract
Wiedemann-Steiner syndrome (WSS) is a rare genetic disorder characterized by dysmorphic features, neurodevelopmental delay, growth retardation, and hypertrichosis cubiti. It is caused by pathogenic variants in the gene. Here, we report a child with WSS presented with neurodevelopmental delay. Genetic analysis revealed a heterozygous c.2312dupC (p.Ser774Valfs*11) variant at the gene that was classified as pathogenic in dbSNP (rs1057518649). To the best of our knowledge, this is the first patient of WSS from Turkey. This case draws attention to the diagnosis of WSS in children with neurodevelopmental delay.
摘要
维德曼-施泰纳综合征（WSS）是一种罕见的遗传性疾病，其特征为畸形特征、神经发育迟缓、生长发育迟缓以及肘部多毛症。它由该基因中的致病变异引起。在此，我们报告一名患有WSS且伴有神经发育迟缓的儿童。基因分析显示该基因存在一个杂合的c.2312dupC（p.Ser774Valfs*11）变异，该变异在dbSNP（rs1057518649）中被分类为致病性变异。据我们所知，这是来自土耳其的首例WSS患者。该病例提醒人们注意对伴有神经发育迟缓儿童的WSS诊断。
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