Thauvin-Robinet-Faivre综合征（TROFAS;OMIM#617107）是一种罕见的常染色体隐性遗传过度生长综合征，其特征是全身性过度生长，畸形面部特征，和由FGF-1细胞内结合蛋白（FIBP）基因的双等位基因致病变体引起的精神运动发育延迟。迄今为止,仅报告了来自两个家庭的四名患者。在这份报告中,我们介绍了1例4岁男性患者,其全身过度生长和发育里程碑延迟与该综合征一致.此外,他有以前病人没有报道过的独特特征，包括流口水,反复肺部感染,慢性肺病，过度伸展的肘关节,发育不良的乳头,单侧隐睾,和频繁的自发勃起。我们确定了一个纯合子，可能的致病变异，c.415_416insCAGTTTG（第Asp139AlafsTer3),这导致了FIBP的移码。此外,我们在Toll样受体5（TLR5）基因中发现了纯合错义变异体，在氯电压门控通道4（CLCN4）基因中发现了半合子错义变异体，在任何一种情况下都具有不确定的意义。在这篇文章中,我们列出了新的观察结果，并讨论了迄今为止报告的患者中这种综合征的特征性发现的频率。
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, we present a 4-year-old male patient with generalized overgrowth and delayed developmental milestones consistent with this syndrome. In addition, 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. We identified a homozygous, likely pathogenic variant, c.415_416insCAGTTTG (p.Asp139AlafsTer3), which causes a frameshift in the FIBP. Additionally, we identified a homozygous missense variant in the Toll-like receptor 5(TLR5) gene and a hemizygous missense variant in the chloride voltage-gated channel 4 (CLCN4) gene, with uncertain significance in either case. In this article, we set out the new observations and also discuss the frequency of the characteristic findings of the syndrome in the patients so far reported.
