Alazami syndrome is a rare disorder with an autosomal recessive inheritance caused by pathogenic biallelic variants in the LARP7 gene. Clinically, it is mainly characterized by short stature, intellectual disability, and dysmorphic facial features. However, the phenotype is not yet well-defined because less than 50 cases have been described to date. Here, we report three new patients from two unrelated Spanish families who, in addition to the defined features of Alazami syndrome, also exhibit unique features that broaden the phenotypic spectrum of the syndrome. Moreover, we describe the novel frameshift variant c.690_699delins27 in the LARP7 gene, in which loss of function is a known mechanism of Alazami syndrome.

Alazami 综合征是一种罕见的常染色体隐性遗传病，由LARP7基因的致病性双等位基因变异引起。临床上主要以身材矮小、智力障碍、五官畸形为特征。然而，表型尚未明确定义，因为迄今为止描述的病例不到 50 例。在这里，我们报告了来自两个不相关的西班牙家庭的三名新患者，他们除了具有 Alazami 综合征的明确特征外，还表现出拓宽该综合征表型谱的独特特征。此外，我们描述了LARP7基因中的新型移码变体 c.690_699delins27，其中功能丧失是 Alazami 综合征的已知机制。