Wiedemann-Steiner Syndrome: A Rare Differential Diagnosis of Neurodevelopmental Delay and Dysmorphic Features

被引：1

作者：

Carman, Kursat Bora ^{[1
]}

Kaplan, Emre ^{[1
]}

Aslan, Cefa Nil ^{[1
]}

Kocagil, Sinem ^{[2
]}

Cilinigr, Oguz ^{[2
]}

Yarar, Coskun ^{[1
]}

机构：

[1] Eskisehir Osmangazi Univ, Fac Med, Dept Pediat Neurol, Eskisehir, Turkey

[2] Eskisehir Osmangazi Univ, Dept Med Genet, Fac Med, Eskisehir, Turkey

来源：

JOURNAL OF PEDIATRIC GENETICS | 2022年 / 11卷 / 02期

关键词：

Wiedemann-Steiner syndrome; genetic; children; neurodevelopmental delay; dysmorphic; PATHOGENIC VARIANT; KMT2A;

D O I：

10.1055/s-0040-1716709

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

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 KMT2A 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 KMT2A 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.

引用

页码：162 / 164

页数：3

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