Scholarlink

<p>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 <i>FIBP</i> 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.</p>

错误：搜索内容不能为空，请输入英文关键词
错误：关键词超出字数限制，请精简
高级检索

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

  • 期刊论文

  • 出版模式：

    开放获取

  • 发表日期：

    2025年6月19日

查看全文
  • Andrea Cosentino,
  • Flavia D’Orazio,
  • Roberto Magnato,
  • Wilhelm Berger

摘要

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.