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

ÇARMAN K. B., Kaplan E., Aslan C. N., Kocagil S., Cilinigr O., YARAR C.

JOURNAL OF PEDIATRIC GENETICS, cilt.11, sa.02, ss.162-164, 2022 (ESCI) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 11 Sayı: 02
  • Basım Tarihi: 2022
  • Doi Numarası: 10.1055/s-0040-1716709
  • Dergi Adı: JOURNAL OF PEDIATRIC GENETICS
  • Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI)
  • Sayfa Sayıları: ss.162-164
  • Anahtar Kelimeler: Wiedemann-Steiner syndrome, genetic, children, neurodevelopmental delay, dysmorphic, PATHOGENIC VARIANT, KMT2A
  • Eskişehir Osmangazi Üniversitesi Adresli: Evet

Özet

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.