Case Report: New phenotype of late-onset Stüve-Wiedemann syndrome due to a C-terminal variant in the LIFR gene

• Main Authors: Evgenia Melnik (Author), Margarita Sharova (Author), Vladimir Kenis (Author), Anna Morgul (Author), Viktoria Zabnenkova (Author), Tatiana Markova (Author)
• Format: Book
• Published: Frontiers Media S.A., 2024-10-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

An early diagnosis of Stüve-Wiedemann syndrome is crucial due to its high neonatal lethality and the potential for autonomic dysfunction in children. Herein, we describe a patient with a late-onset, arthrogryposis-like phenotype form of Stüve-Wiedemann syndrome. While most cases result in neonatal...