- Geminin and delta-like canonical Notch ligand 1 mutation-related spondylocarpotarsal synostosis: a case report
-
Joonhwan Lee, Byungju Ryu, Yunhee Kim, Eunyoung Lee
-
Received October 4, 2024 Accepted November 8, 2024 Published online November 21, 2024
-
DOI: https://doi.org/10.12701/jyms.2024.01137
-
-
 Abstract
- Spondylocarpotarsal synostosis syndrome (SCTS) is a rare genetic disorder characterized by vertebral fusion, short stature, and skeletal anomalies. SCTS is primarily associated with mutations in filamin B. However, in this report, we present a unique case of SCTS in a 28-year-old male who complained of neck and shoulder pain persisting for 1 year. His clinical presentation included radioulnar synostosis, cervical spine anomalies (scoliosis and agenesis of the posterior arch of C1), and a history of polydactyly. Genetic analysis revealed mutations in geminin and delta-like canonical Notch ligand 1. To the best of our knowledge, this is the first report on the association of SCTS with these genes.
|
E-Submission
Yeungnam University College of Medicine
