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

Abstract excerpt

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...

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