Biallelic mutations in the LARP7 gene have been recently shown to cause Alazami syndrome, a rare condition characterized by short stature, intellectual disability, and peculiar facial dysmorphisms. To date, only 24 cases have been reported. Here, we describe two brothers initially suspected to have Smith–Lemli–Opitz syndrome, in whom clinical exome sequencing detected a novel homozygous truncating variant in LARP7. These cases expand the phenotypic spectrum of Alazami syndrome to include toes syndactyly and adaptive behavior, and confirm the power of “genotype first” approach in patients with syndromic presentations overlapping distinct rare conditions.

中文翻译：

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Alazami综合征：表型扩展和临床相似于Smith-Lemli-Opitz综合征。

最近显示，LARP7基因中的双等位基因突变会引起Alazami综合征，这是一种罕见的疾病，其特征是身材矮小，智力残疾和面部畸形。迄今为止，仅报告了24例。在这里，我们描述了最初怀疑患有Smith–Lemli–Opitz综合征的两个兄弟，其中临床外显子组测序检测到LARP7中有一个新的纯合截短变体。这些病例扩大了Alazami综合征的表型谱，包括趾和适应性行为，并证实了“症状多发”的患者在症状明显重叠的罕见情况下表现出优势。