{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,31]],"date-time":"2026-08-31T10:16:11Z","timestamp":1788171371631,"version":"build-2803163510"},"reference-count":17,"publisher":"MDPI AG","issue":"9","license":[{"start":{"date-parts":[[2026,8,31]],"date-time":"2026-08-31T00:00:00Z","timestamp":1788134400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Spondylocarpotarsal synostosis syndrome (SCT) is a rare autosomal recessive skeletal dysplasia caused by biallelic loss-of-function variants in FLNB, characterized by disproportionate short stature, progressive vertebral fusion, scoliosis, and carpal (typically capitate\u2013hamate) synostosis, classically without rib anomalies. We performed a systematic literature search of PubMed\/MEDLINE and Scopus, supplemented by citation searching, following the PRISMA 2020 statement, to identify all reports providing original, molecularly confirmed FLNB-related SCT patient data. Eleven eligible publications, spanning Taiwanese, Argentinian, Pakistani, Italian, German and Indian cohorts, were included in a qualitative synthesis together with a novel case. The novel patient, an adopted child of Indian origin, presented with severe disproportionate short stature, multisegmental vertebral fusion and posterior arch clefts extending from the cervical to the sacral spine, coccygeal dysgenesis, capitate\u2013hamate fusion, and global developmental delay; targeted exome sequencing identified a novel homozygous frameshift FLNB variant. Integration of this case with the reviewed literature confirms disproportionate short stature, contiguous vertebral fusion, and carpal synostosis as near-universal core features, while tarsal fusion, hearing loss, and facial dysmorphism are variably present. The extent and multisegmental pattern of axial involvement in our patient appear more severe than in most previously reported cases, broadening the recognized phenotypic spectrum of FLNB-related SCT and reinforcing the need for structured, multidisciplinary long-term follow-up.<\/jats:p>","DOI":"10.3390\/genes17091054","type":"journal-article","created":{"date-parts":[[2026,8,31]],"date-time":"2026-08-31T09:21:19Z","timestamp":1788168079000},"page":"1054","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Filamin B (FLNB)-Related Spondylocarpotarsal Synostosis Syndrome: Systematic Literature Review and Novel Case Report"],"prefix":"10.3390","volume":"17","author":[{"given":"Chiara","family":"Gobbetto","sequence":"first","affiliation":[{"name":"Paediatric Unit, Department of Surgical Science, Dentistry, Gynecology and Paediatrics, Azienda Ospedaliera Universitaria Integrata Verona, P.le Stefani 1, 37135 Verona, Italy"},{"name":"Division of Paediatrics, Department of Medicine (DMED), University of Udine, 33100 Udine, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sofia","family":"Passarella","sequence":"additional","affiliation":[{"name":"Paediatric Unit, Department of Surgical Science, Dentistry, Gynecology and Paediatrics, Azienda Ospedaliera Universitaria Integrata Verona, P.le Stefani 1, 37135 Verona, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5429-6036","authenticated-orcid":false,"given":"Thomas","family":"Zoller","sequence":"additional","affiliation":[{"name":"Paediatric Unit, Department of Surgical Science, Dentistry, Gynecology and Paediatrics, Azienda Ospedaliera Universitaria Integrata Verona, P.le Stefani 1, 37135 Verona, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0009-5378-1895","authenticated-orcid":false,"given":"Ruggero","family":"Lanzafame","sequence":"additional","affiliation":[{"name":"Paediatric Unit, Department of Surgical Science, Dentistry, Gynecology and Paediatrics, Azienda Ospedaliera Universitaria Integrata Verona, P.le Stefani 1, 37135 Verona, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rossella","family":"Gaudino","sequence":"additional","affiliation":[{"name":"Paediatric Unit, Department of Surgical Science, Dentistry, Gynecology and Paediatrics, Azienda Ospedaliera Universitaria Integrata Verona, P.le Stefani 1, 37135 Verona, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Irene","family":"Ambrosetti","sequence":"additional","affiliation":[{"name":"Clinical Genetics Unit, Azienda Ospedaliera Universitaria Integrata Verona, 37134 Verona, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9912-3232","authenticated-orcid":false,"given":"Angelo","family":"Pietrobelli","sequence":"additional","affiliation":[{"name":"Paediatric Unit, Department of Surgical Science, Dentistry, Gynecology and Paediatrics, Azienda Ospedaliera Universitaria Integrata Verona, P.le Stefani 1, 37135 Verona, Italy"},{"name":"Pennington Biomedical Research Center, Baton Rouge, LA 70808, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1405-1792","authenticated-orcid":false,"given":"Franco","family":"Antoniazzi","sequence":"additional","affiliation":[{"name":"Paediatric Unit, Department of Surgical Science, Dentistry, Gynecology and Paediatrics, Azienda Ospedaliera Universitaria Integrata Verona, P.le Stefani 1, 37135 Verona, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2026,8,31]]},"reference":[{"key":"ref_1","unstructured":"Jones, K.L., Guthrie, R.D., and Smith, D.W. 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