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. 2025 Jun 19.
doi: 10.1007/s13353-025-00984-2. Online ahead of print.

Expanding the knowledge about Thauvin-Robinet-Faivre syndrome: a case report with novel clinical findings and review of the literature

Andrea Cosentino  1   2 , Flavia D'Orazio  3 , Roberto Magnato  3 , Wilhelm Berger  4
Affiliations

Expanding the knowledge about Thauvin-Robinet-Faivre syndrome: a case report with novel clinical findings and review of the literature

Andrea Cosentino et al. J Appl Genet. .

Abstract

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 FIBP 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.

Keywords: Developmental delays; FIBP gene; Hearing loss; Overgrowth; TROFAS.

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Conflict of interest statement

Declarations. Ethics approval: Not applicable Consent to participate: 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. Consent for publication: The parents signed the informed consent and agreed to publish the images of the daughter without anonymization. Conflict of interest: The authors declare no competing interests. Disclaimer: 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.

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