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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Yeungnam University College of Medicine, Yeungnam University Institute Medical Science
2025-01-01
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| Series: | Journal of Yeungnam Medical Science |
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| Online Access: | http://www.e-jyms.org/upload/pdf/jyms-2024-01137.pdf |
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| author | Joonhwan Lee Byungju Ryu Yunhee Kim Eunyoung Lee |
| author_facet | Joonhwan Lee Byungju Ryu Yunhee Kim Eunyoung Lee |
| author_sort | Joonhwan Lee |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-c04482a946c14308b8b04fdc8bfddd9e |
| institution | Kabale University |
| issn | 2799-8010 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Yeungnam University College of Medicine, Yeungnam University Institute Medical Science |
| record_format | Article |
| series | Journal of Yeungnam Medical Science |
| spelling | doaj-art-c04482a946c14308b8b04fdc8bfddd9e2025-02-11T06:26:37ZengYeungnam University College of Medicine, Yeungnam University Institute Medical ScienceJournal of Yeungnam Medical Science2799-80102025-01-014210.12701/jyms.2024.011372874GMNN and DLL1 mutation-related spondylocarpotarsal synostosis: a case reportJoonhwan Lee0Byungju Ryu1Yunhee Kim2Eunyoung Lee3 Department of Physical Medicine and Rehabilitation, Sahmyook Medical Center, Seoul, Korea Department of Physical Medicine and Rehabilitation, Loving Care Clinic, Seongnam, Korea Department of Physical Medicine and Rehabilitation, Sahmyook Medical Center, Seoul, Korea Department of Physical Medicine and Rehabilitation, Sahmyook Medical Center, Seoul, KoreaSpondylocarpotarsal 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.http://www.e-jyms.org/upload/pdf/jyms-2024-01137.pdfcervical vertebraeradioulnar synostosisspondylocarpotarsal synostosis |
| spellingShingle | Joonhwan Lee Byungju Ryu Yunhee Kim Eunyoung Lee GMNN and DLL1 mutation-related spondylocarpotarsal synostosis: a case report Journal of Yeungnam Medical Science cervical vertebrae radioulnar synostosis spondylocarpotarsal synostosis |
| title | GMNN and DLL1 mutation-related spondylocarpotarsal synostosis: a case report |
| title_full | GMNN and DLL1 mutation-related spondylocarpotarsal synostosis: a case report |
| title_fullStr | GMNN and DLL1 mutation-related spondylocarpotarsal synostosis: a case report |
| title_full_unstemmed | GMNN and DLL1 mutation-related spondylocarpotarsal synostosis: a case report |
| title_short | GMNN and DLL1 mutation-related spondylocarpotarsal synostosis: a case report |
| title_sort | gmnn and dll1 mutation related spondylocarpotarsal synostosis a case report |
| topic | cervical vertebrae radioulnar synostosis spondylocarpotarsal synostosis |
| url | http://www.e-jyms.org/upload/pdf/jyms-2024-01137.pdf |
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