Filamin B (FLNB)-Related Spondylocarpotarsal Synostosis Syndrome: Systematic Literature Review and Novel Case Report
Chiara Gobbetto, Sofia Passarella, Thomas Zoller, Ruggero Lanzafame, Rossella Gaudino, Irene Ambrosetti, Angelo Pietrobelli, Franco Antoniazzi · 2026
Read Filamin B (FLNB)-Related Spondylocarpotarsal Synostosis Syndrome: Systematic Literature Review and Novel Case Report by Chiara Gobbetto, Sofia Passarella, Thomas Zoller, Ruggero Lanzafame, Rossella Gaudino, Irene Ambrosetti, Angelo Pietrobelli, Franco Antoniazzi (2026) 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-13606696.txt.
Description
Chiara Gobbetto, Sofia Passarella, Thomas Zoller, and a wider team wrote this review and case report, published in 2026. It covers a rare inherited bone disorder in which the spine, wrist, and ankle bones fuse together as a child grows.
The disorder stems from faults in a gene called FLNB and leads to short stature, a fusing spine, and curved posture. The team gathered every published case with confirmed gene results: eleven papers from six countries. They add a new case, an adopted child from India with severe spine fusion and a gene fault never reported before. Across all cases, short stature, joined spine bones, and fused wrist bones appear almost every time. The review helps doctors spot the condition earlier.
Catalog record
| CREATOR | Chiara Gobbetto, Sofia Passarella, Thomas Zoller, Ruggero Lanzafame, Rossella Gaudino, Irene Ambrosetti, Angelo Pietrobelli, Franco Antoniazzi |
|---|---|
| YEAR | 2026 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 29 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |