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

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 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.

Keywords

Wiedemann–Steiner syndrome - genetic - children - neurodevelopmental delay - dysmorphic

Ethical Approval

This report was approved by university ethics committee.

Publikationsverlauf

Eingereicht: 25. Mai 2020

Angenommen: 11. August 2020

Artikel online veröffentlicht:
23. September 2020

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