BACKGROUND It is not uncommon that an infant with a disease of unknown etiology is presented to a physician. Facial dysmorphic features lead to a different diagnosis. It is a challenge to link the presentation to the newfound diagnosis. CASE PRESENTATION A 37-day-old Yemenite Jewish girl was presented to our institution with a clinical picture of pseudohypoaldosteronism due to abnormal facial features and a psychomotor developmental delay. Further investigation led to the diagnosis of CDK13-related disorder. According to the literature, CDK13 has a key role in the cell cycle, but no interference with the aldosterone signaling pathway or electrolyte balance was described. No mutations in the previously described gene NR3C2 (cytogenetic location 4q31.23), encoding the mineralocorticoid receptor, were found. Although the clinical presentation corresponded to pseudohypoaldosteronism type 1, we could not genetically confirm this. CONCLUSIONS Probably pseudohypoaldosteronism was a coincidental finding in this girl with a CDK13 mutation, but because only limited information is known about CDK13-related disorders, further investigation could be more informative to clarify this presentation.

中文翻译：

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一个假性醛固酮增多症导致CDK13相关疾病的诊断的1个月大女孩：病例报告和文献复习。

背景技术将病因不明的婴儿介绍给医生是很常见的。面部畸形特征导致不同的诊断。将演示文稿与新发现的诊断联系起来是一个挑战。病例介绍一名37岁的也门犹太女孩因面部特征异常和精神运动发育迟缓而出现伪性醛固酮增多症的临床表现被介绍给我们的机构。进一步的研究导致了与CDK13相关的疾病的诊断。根据文献，CDK13在细胞周期中起关键作用，但是没有描述对醛固酮信号传导途径或电解质平衡的干扰。在先前描述的编码盐皮质激素受体的基因NR3C2（细胞遗传学位置4q31.23）中未发现突变。尽管临床表现与假性低醛固酮增多症1型相对应，但我们无法通过基因证实这一点。结论假性低醛固酮增多症可能是这个患有CDK13突变的女孩的偶然发现，但由于只有很少的有关CDK13相关疾病的信息，因此进一步的研究可能会更有益于阐明这一表现。