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.

Summary

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 complications, our patient only presented with camptodactyly, ulnar deviation of the wrist, and minor facial features at birth, resembling an arthrogryposis-like phenotype. The condition went undiagnosed until adolescence when noticeable gait and posture abnormalities emerged. Clinical and radiological findings confirmed the diagnosis of benign Stüve-Wiedemann syndrome with light autonomic dysregulation. Notably, our patient lacked the typical bent bone features but showed widened metaphyses and thickened femoral necks. Genetic analysis revealed a novel variant in the last exon of the LIFR gene, possibly explaining the mild phenotype. This case expands our understanding of Stüve-Wiedemann syndrome variability, aiding in earlier detection and better medical-genetic counseling.

Item Description

2296-2360
10.3389/fped.2024.1442624