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.
Simetrik periferal kangren; büyük ven tıkanıklığı olmaksızın iki ya da daha fazla bölgenin iskemisidir. Bu durum sepsisin nadir görülen ancak mortalitesi yüksek bir komplikasyonudur. Olguların yaklaşık yarısında ampütasyona gidiş gözlenmiştir. Simetrik periferik kangren olgularının %85'i dissemine intravasküler koagülasyon ile ilişkilidir. Sepsis tablosunda izlenmekte iken dissemine intravasküler koagülasyon ikincil simetrik periferik kangren gelişen olgu özellikle çocukluk çağında nadir görülmesi nedeniyle sunulmuştur.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.