Longitudinal Syringomyelia, Cervical Dystonia, and Action Tremor in Trichorhinophalangeal Syndrome Type I – A Case Report
Bogdana Petko, Brent D. Weinberg, Jaime Vengoechea, Matthew Gary, Paul A. Beach · 2025
Read Longitudinal Syringomyelia, Cervical Dystonia, and Action Tremor in Trichorhinophalangeal Syndrome Type I – A Case Report by Bogdana Petko, Brent D. Weinberg, Jaime Vengoechea, Matthew Gary, Paul A. Beach (2025) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/pmc-12758099.txt.
Description
Bogdana Petko and four co-authors reported in 2025 a patient with a rare inherited syndrome who developed three linked problems over time. The syndrome marks the face, hair, and skeleton, including the skull base. The patient also had a fluid-filled cord cavity in the spine, neck muscle twisting, and shaking with action.
The authors argue the movement problems flow from the cord cavity, which itself follows from the skull base changes of the syndrome. They review like cases and possible paths between the features. The report alerts doctors to watch the spine in this syndrome.
Catalog record
| CREATOR | Bogdana Petko, Brent D. Weinberg, Jaime Vengoechea, Matthew Gary, Paul A. Beach |
|---|---|
| YEAR | 2025 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 16 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |