Cornelia de Lange syndrome (CdLS) is a rare and clinically variable syndrome characterized by growth impairment, multi-organ anomalies, and a typical set of facial dysmorphisms. Here we describe a 2-year-old female child harboring a novel de novo missense variant in HDAC8, whose phenotypical score, according to the recent consensus on CdLS clinical diagnostic criteria, allowed the diagnosis of a non-classic CdLS.

中文翻译：

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一种新的从头 HDAC8 错义突变导致 Cornelia de Lange 综合征

Cornelia de Lange 综合征 (CdLS) 是一种罕见的临床多变综合征，其特征是生长障碍、多器官异常和一组典型的面部畸形。在这里，我们描述了一个 2 岁女童，其在 HDAC8 中具有新的从头错义变体，根据最近关于 CdLS 临床诊断标准的共识，其表型评分允许诊断为非经典 CdLS。