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Article

Silver Russell syndrome in a preterm girl with 8q12.1 deletion encompassing PLAG1.

Clinical dysmorphology - 1 Oct 2021

Fernández-Fructuoso José Ramón, De la Torre-Sandoval Cristina, Harbison Madeleine D, Chantot-Bastaraud Sandra, Temple Karen, Lloreda-Garcia Jose Maria, Olmo-Sanchez Maria, Netchine Irene

Abstract excerpt

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...

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PMID: 34480472
DOI: 10.1097/MCD.0000000000000375

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