{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,19]],"date-time":"2026-10-19T19:44:07Z","timestamp":1792439047819,"version":"4.5.0"},"reference-count":8,"publisher":"Wiley","license":[{"start":{"date-parts":[[2026,10,18]],"date-time":"2026-10-18T00:00:00Z","timestamp":1792281600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2026,10,18]],"date-time":"2026-10-18T00:00:00Z","timestamp":1792281600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Thauvin\u2013Robinet\u2013Faivre syndrome (TROFAS, OMIM #617107) is a recently identified autosomal recessive disorder characterised by syndromic overgrowth, facial dysmorphism, mild intellectual disability, variable congenital anomalies, and occasional tumour occurrence. TROFAS results from homozygous or compound heterozygous variants in the\n                    <jats:italic>FIBP<\/jats:italic>\n                    gene, encoding the intracellular binding protein for acidic fibroblast growth factor. This protein plays a role in the fibroblast growth factor (FGF) signalling pathway, which is involved in cell proliferation and contributes to the development of several structures, such as the nervous system, optic vesicles, and blood vessels. Prior to the present report, TROFAS has been described in 10 patients from seven families, four of which are of Turkish origin. We report two additional Turkish siblings from a previously unreported family harbouring the recurrent homozygous c.412\u20103_415dupCAGTTTG likely pathogenic variant in\n                    <jats:italic>FIBP<\/jats:italic>\n                    . Both presented with typical TROFAS features; however, the male sibling exhibited a more severe neurodevelopmental profile and additional malformations, including postaxial polydactyly and upper lip vascular malformation, which, to our knowledge, have not previously been reported in association with TROFAS. A detailed clinical characterisation of these two new cases contributes to a more comprehensive delineation of the syndrome, adding potentially novel phenotypic features requiring confirmation in additional patients.\n                  <\/jats:p>","DOI":"10.1111\/cge.70264","type":"journal-article","created":{"date-parts":[[2026,10,19]],"date-time":"2026-10-19T01:15:36Z","timestamp":1792372536000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["A Familial Case of Thauvin\u2013Robinet\u2013Faivre Syndrome (\n                    <scp>TROFAS<\/scp>\n                    ), Presenting With Postaxial Polydactyly and Upper Lip Vascular Malformation"],"prefix":"10.1111","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1857-7505","authenticated-orcid":false,"given":"Federica","family":"Ruscitti","sequence":"first","affiliation":[{"name":"Service de G\u00e9n\u00e9tique Clinique Robert\u2010Debr\u00e9 Hospital, AP\u2010HP Paris Nord, ERN ITHACA  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xenia","family":"Latypova","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique Clinique Robert\u2010Debr\u00e9 Hospital, AP\u2010HP Paris Nord, ERN ITHACA  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Faustine","family":"Ageorges","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique Clinique Robert\u2010Debr\u00e9 Hospital, AP\u2010HP Paris Nord, ERN ITHACA  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3717-8374","authenticated-orcid":false,"given":"Antonio","family":"Vitobello","sequence":"additional","affiliation":[{"name":"INSERM, CTM UMR1231, \u00e9quipe GAD, FHU TRANSLAD, Laboratoire de G\u00e9nomique M\u00e9dicale Universit\u00e9 Bourgogne Europe, CHU Dijon Bourgogne  Dijon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7098-6520","authenticated-orcid":false,"given":"Christophe","family":"Philippe","sequence":"additional","affiliation":[{"name":"Laboratoire de G\u00e9n\u00e9tique M\u00e9dicale CHR Metz\u2010Thionville  Metz France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3795-9456","authenticated-orcid":false,"given":"Fr\u00e9d\u00e9ric Tran Mau","family":"Them","sequence":"additional","affiliation":[{"name":"INSERM, CTM UMR1231, \u00e9quipe GAD, FHU TRANSLAD, Laboratoire de G\u00e9nomique M\u00e9dicale Universit\u00e9 Bourgogne Europe, CHU Dijon Bourgogne  Dijon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yannis","family":"Duffourd","sequence":"additional","affiliation":[{"name":"Laboratoire de G\u00e9nomique Mol\u00e9culaire, Institut Agro, Centre de Lutte Contre le Cancer G.\u2010F. Leclerc, INSERM, BioSanD US 58, Plateforme BIOME, INSERM CTM U1231, \u00e9quipe GAD, FHU TRANSLAD Universit\u00e9 Bourgogne Europe, CHU Dijon Bourgogne  Dijon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Georges","family":"Gelwane","sequence":"additional","affiliation":[{"name":"Pediatric Endocrinology\u2010Diabetology Department, Reference Center for Rare Growth and Development Endocrine Diseases, INSERM NeuroDiderot, Assistance Publique\u2010H\u00f4pitaux de Paris Universit\u00e9 de Paris, Robert Debr\u00e9 University Hospital  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cherine","family":"Benzouid","sequence":"additional","affiliation":[{"name":"Pediatric Cardiology Unit Hopital Universitaire Robert Debr\u00e9, APHP  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6269-5966","authenticated-orcid":false,"given":"Yline","family":"Capri","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique Clinique Robert\u2010Debr\u00e9 Hospital, AP\u2010HP Paris Nord, ERN ITHACA  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,10,18]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12704"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37741"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.63300"},{"key":"e_1_2_12_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.63507"},{"key":"e_1_2_12_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.63449"},{"key":"e_1_2_12_7_1","doi-asserted-by":"publisher","DOI":"10.4274\/jcrpe.galenos.2025.2024\u201010\u201012"},{"key":"e_1_2_12_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.63180"},{"key":"e_1_2_12_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/s13353\u2010025\u201000984\u20102"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.70264","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/cge.70264","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.70264","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,10,19]],"date-time":"2026-10-19T18:58:19Z","timestamp":1792436299000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.70264"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,10,18]]},"references-count":8,"alternative-id":["10.1111\/cge.70264"],"URL":"https:\/\/doi.org\/10.1111\/cge.70264","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,10,18]]},"assertion":[{"value":"2026-02-07","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-10-01","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-10-18","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"cge.70264"}}