Cosentino Andrea, D'Orazio Flavia, Magnato Roberto, Berger Wilhelm
Department of Orthopedics and Traumatology, Franz Tappeiner Hospital, via Rossini 5, Meran, 39012, Bolzano, Italy.
Paracelsus Medical University, Strubergasse 21, 5020, Salzburg, Austria.
J Appl Genet. 2025 Jun 19. doi: 10.1007/s13353-025-00984-2.
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.
本病例报告扩展了Thauvin-Robinet-Faivre综合征（TROFAS，OMIM #617107）的表型谱，这是一种由FIBP基因双等位基因功能丧失突变引起的罕见常染色体隐性疾病。我们描述了一名经基因确诊的TROFAS患者，其具有新的临床特征，包括非骨化性纤维瘤、声门下气管狭窄、中间葡萄膜炎以及需要植入起搏器的完全性房室传导阻滞。这些发现显著拓宽了TROFAS的表型范围，并强调了多学科管理和长期随访的必要性。
