Silver Russell syndrome (SRS) is a congenital disorder characterized by intrauterine growth retardation (IUGR), feeding difficulties and postnatal growth retardation. In a small number of cases, PLAG1 variants have been described (OMIM #618907). PLAG1 haploinsufficiency decreases Insulin-like growth factor 2 expression and produces a Silver Russell syndrome-like phenotype. Here, we describe the phenotype and molecular features of a 26 months girl with clinical features of SRS, and a de novo 2.1 Mb deletion encompassing PLAG1 is reported in association with clinical features suggestive of SRS.

中文翻译：

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一名早产女孩患有 Silver Russell 综合征，其 8q12.1 缺失包含 PLAG1。

银罗素综合征（SRS）是一种以宫内生长迟缓（IUGR）、喂养困难和产后生长迟缓为特征的先天性疾病。在少数情况下，已描述了 PLAG1 变体 (OMIM #618907)。PLAG1 单倍体不足会降低胰岛素样生长因子 2 的表达并产生银罗素综合征样表型。在这里，我们描述了一名具有 SRS 临床特征的 26 个月女孩的表型和分子特征，据报道，包含 PLAG1 的从头 2.1 Mb 缺失与提示 SRS 的临床特征相关。