GMNN and DLL1 mutation-related spondylocarpotarsal synostosis: a case report
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...
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| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Yeungnam University College of Medicine, Yeungnam University Institute Medical Science
2025-01-01
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| Series: | Journal of Yeungnam Medical Science |
| Subjects: | |
| Online Access: | http://www.e-jyms.org/upload/pdf/jyms-2024-01137.pdf |
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| Summary: | 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 GMNN and DLL1. To the best of our knowledge, this is the first report on the association of SCTS with these genes. |
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| ISSN: | 2799-8010 |