Home Latest news Expanding the phenotype and genotype in Thauvin-Robinet-Faivre syndrome

Expanding the phenotype and genotype in Thauvin-Robinet-Faivre syndrome

by informer

Thauvin-Robinet-Faivre syndrome (TROFAS; OMIM #617107) is a rare autosomal recessive overgrowth syndrome characterized by generalized overgrowth, dysmorphic facial features, and delayed psychomotor development caused by biallelic pathogenic variants in the FGF-1 intracellular binding protein (FIBP) gene. To date, only four patients from two families have been reported. In this report, a 4-year-old male patient with generalized overgrowth and delayed developmental milestones consistent with this syndrome is presented. He has unique features that were not reported in previous patients, including drooling, recurrent pulmonary infections, chronic pulmonary disease, hyperextensible elbow joints, hypoplastic nipples, unilateral cryptorchidism, and frequent spontaneous erections. In this report a homozygous, likely pathogenic variant, c.415_ (p.Asp139AlafsTer3), which causes a frameshift in the FIBP is identified.  In this article, the new observations are set out and also discuss the frequency of the characteristic findings of the syndrome in the patients so far reported. Read the full article here.

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