{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,15]],"date-time":"2026-04-15T03:41:44Z","timestamp":1776224504387,"version":"3.50.1"},"reference-count":9,"publisher":"Springer Science and Business Media LLC","issue":"2","license":[{"start":{"date-parts":[[2025,6,19]],"date-time":"2025-06-19T00:00:00Z","timestamp":1750291200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2025,6,19]],"date-time":"2025-06-19T00:00:00Z","timestamp":1750291200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100011852","name":"Paracelsus Medical University","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100011852","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Appl Genetics"],"published-print":{"date-parts":[[2026,5]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    This case report expands the phenotypic spectrum of Thauvin-Robinet-Faivre syndrome (TROFAS, OMIM #617107), a rare autosomal recessive disorder caused by biallelic loss-of-function mutations in the\n                    <jats:italic>FIBP<\/jats:italic>\n                    gene. We describe a patient with genetically confirmed TROFAS who presented with novel clinical features, including non-ossifying fibromas, subglottic tracheal stenosis, intermediate uveitis, and complete atrioventricular block requiring pacemaker implantation. The findings significantly broaden the phenotypic landscape of TROFAS and underscore the need for multidisciplinary management and long-term follow-up.\n                  <\/jats:p>","DOI":"10.1007\/s13353-025-00984-2","type":"journal-article","created":{"date-parts":[[2025,6,19]],"date-time":"2025-06-19T02:41:24Z","timestamp":1750300884000},"page":"451-457","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Expanding the knowledge about Thauvin-Robinet-Faivre syndrome: a case report with novel clinical findings and review of the literature"],"prefix":"10.1007","volume":"67","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7885-512X","authenticated-orcid":false,"given":"Andrea","family":"Cosentino","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Flavia","family":"D\u2019Orazio","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roberto","family":"Magnato","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wilhelm","family":"Berger","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2025,6,19]]},"reference":[{"key":"984_CR1","doi-asserted-by":"publisher","unstructured":"Akawi NA et al (2016) A recessive syndrome of intellectual disability, moderate overgrowth, and renal dysplasia predisposing to Wilms tumor is caused by a mutation in FIBP gene. Am J Med Genet Part A 170(8):2129\u20132135. https:\/\/doi.org\/10.1002\/ajmg.a.37741","DOI":"10.1002\/ajmg.a.37741"},{"issue":"1","key":"984_CR2","doi-asserted-by":"publisher","first-page":"67","DOI":"10.1111\/cge.14089","volume":"101","author":"Y Andreou","year":"2021","unstructured":"Andreou Y et al (2021) Early psychosis in Thauvin-Robinet-Faivre syndrome, a complication of the disease? Clin Genet 101(1):67\u201371. https:\/\/doi.org\/10.1111\/cge.14089","journal-title":"Clin Genet"},{"key":"984_CR3","doi-asserted-by":"publisher","unstructured":"Chung B et al (2012) Overgrowth with increased proliferation of fibroblast and matrix metalloproteinase activity related to reduced\u00a0timp1: a newly recognized syndrome? Am J Med Genet Part A 158A:2373\u20132381. https:\/\/doi.org\/10.1111\/cge.14089","DOI":"10.1111\/cge.14089"},{"key":"984_CR4","doi-asserted-by":"publisher","first-page":"2232","DOI":"10.1002\/ajmg.a.63300","volume":"191A","author":"M Duzenli","year":"2023","unstructured":"Duzenli M et al (2023) Expanding the phenotype and genotype in Thauvin-Robinet-Faivre syndrome. Am J Med Genet Part A 191A:2232\u20132239. https:\/\/doi.org\/10.1002\/ajmg.a.63300","journal-title":"Am J Med Genet Part A"},{"key":"984_CR5","doi-asserted-by":"publisher","first-page":"449","DOI":"10.1007\/s00064-016-0460-x","volume":"28","author":"K Heck","year":"2016","unstructured":"Heck K, Heck A, Placzek R (2016) Klumpfu\u00dftherapie nach ponseti. Oper Orthop Traumatol 28:449\u2013471","journal-title":"Oper Orthop Traumatol"},{"key":"984_CR6","doi-asserted-by":"publisher","unstructured":"K\u0131l\u0131\u00e7 E, Ko\u015fukcu C (2024) New cases of recently described Thauvin-Obinet-Faivre syndrome with a novel homozygous FIBP gene variant. Am J Med Genet Part A 194A:e63449. https:\/\/doi.org\/10.1002\/ajmg.a.63449","DOI":"10.1002\/ajmg.a.63449"},{"key":"984_CR7","doi-asserted-by":"publisher","first-page":"505","DOI":"10.1111\/cge.14089","volume":"24","author":"OM Neylon","year":"2012","unstructured":"Neylon OM, Werther GA, Sabin MA (2012) Overgrowth syndromes. Curr Opin Pediatr. 24:505\u2013511. https:\/\/doi.org\/10.1111\/cge.14089","journal-title":"Curr Opin Pediatr."},{"key":"984_CR8","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1111\/cge.12704","volume":"89","author":"C Thauvin-Robinet","year":"2016","unstructured":"Thauvin-Robinet C et al (2016) Homozygous FIBP nonsense variant responsible for syndromic overgrowth, with macrocephaly, retinal coloboma, and learning disabilities. Clin Genet. 89:1\u20134. https:\/\/doi.org\/10.1111\/cge.12704","journal-title":"Clin Genet."},{"key":"984_CR9","first-page":"1","volume":"10","author":"DD Weaver","year":"1994","unstructured":"Weaver DD (1994) Overgrowth syndromes and disorders: definition, classification and discussion. Growth Gen Horm 10:1\u20134","journal-title":"Growth Gen Horm"}],"container-title":["Journal of Applied Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s13353-025-00984-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s13353-025-00984-2","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s13353-025-00984-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,15]],"date-time":"2026-04-15T02:43:23Z","timestamp":1776221003000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s13353-025-00984-2"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,6,19]]},"references-count":9,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2026,5]]}},"alternative-id":["984"],"URL":"https:\/\/doi.org\/10.1007\/s13353-025-00984-2","relation":{},"ISSN":["1234-1983","2190-3883"],"issn-type":[{"value":"1234-1983","type":"print"},{"value":"2190-3883","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,6,19]]},"assertion":[{"value":"24 February 2025","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"22 April 2025","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"27 May 2025","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"19 June 2025","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"Not applicable","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval"}},{"value":"Written informed consent was obtained from the patient and from both parents for publication and any accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal upon request.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent to participate"}},{"value":"The parents signed the informed consent and agreed to publish the images of the daughter without anonymization.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare no competing interests.","order":5,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}},{"value":"The authors confirm that they have followed ethical guidelines, including protecting patient privacy; for the better understanding of the clinical findings, we did not anonymize the face of the girl. During the preparation of this work, the authors used ChatGPT to improve readability and language. After using this tool, the authors reviewed and edited the content as needed and take full responsibility for the content of the publication.","order":6,"name":"Ethics","group":{"name":"EthicsHeading","label":"Disclaimer"}}]}}