2021•Unpublished venueRequires access
Silver Russell syndrome in a preterm girl with 8q12.1 deletion encompassing PLAG1.
José Ramón Fernández‐Fructuoso, Cristina De la Torre-Sandoval, Madeleine D. Harbison, Sandra Chantot‐Bastaraud, I. Karen Temple, José María Lloreda García, María Olmo‐Sánchez, Professor Irene Netchine
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Abstract
Silver Russell syndrome (SRS) is a congenital disorder characterised 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 IGF2 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.