Casein kinase 2‐related disorders have been linked to pathogenic variants in CSNK2A1 and CSNK2B. CSNK2B‐related disease is predominantly associated with neurodevelopmental abnormalities affecting cognition; however, the extent of the phenotype associated with CSNK2B pathogenic variants is yet to be fully explored. Here, we describe a patient with features suggestive of Poirier–Bienvenu neurodevelopmental syndrome, harboring a novel CSNK2B pathogenic variant. We also report that the linear growth abnormalities could be a recurrent presentation in patients with this syndrome and suggest the effect of growth hormone therapy in our patient's stature.

中文翻译：

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Poirier-Bienvenu神经发育综合征：一名CSNK2B病原性变异患者，线性生长异常

酪蛋白激酶2相关疾病已与CSNK2A1和CSNK2B中的致病变异有关。与CSNK2B相关的疾病主要与影响认知的神经发育异常有关；然而，与CSNK2B致病性变异相关的表型范围尚待充分探讨。在这里，我们描述了一个具有Poirier-Bienvenu神经发育综合症提示特征的患者，该患者具有新型CSNK2B致病变异。我们还报告说，线性生长异常可能是该综合征患者的复发表现，并提示了生长激素治疗对我们患者身材的影响。