Among children with FGFR2-associated Pfeiffer syndrome, those with the W290C pathogenic variant (PV) are reported to have the worst clinical outcomes. Mortality is high, and severe neurocognitive impairment has been reported in all surviving patients. However, it is unclear whether these poor outcomes are an unavoidable consequence of the PV itself, or could be improved with a genotype-specific treatment approach. The purpose of this report is to describe the more intensive surgical approach used for each of the three patients with W290C PV in FGFR2 at our center, all of whom survived and have normal neurocognitive functioning.

中文翻译：

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对于因 FGFR2 中 W290C 致病性变异而导致的 Pfeiffer 综合征患者的基因型特异性手术方法与改善发育结果和降低死亡率相关。

据报道，在患有 FGFR2 相关 Pfeiffer 综合征的儿童中，携带 W290C 致病性变异 (PV) 的儿童临床结果最差。死亡率很高，据报道，所有幸存的患者都有严重的神经认知障碍。然而，尚不清楚这些不良结果是否是 PV 本身不可避免的后果，还是可以通过基因型特异性治疗方法得到改善。本报告的目的是描述我们中心 FGFR2 中的三名 W290C PV 患者中每一位患者使用的更强化的手术方法，他们都幸存下来并具有正常的神经认知功能。