Silver Russell syndrome in a preterm girl with 8q12.1 deletion encompassing PLAG1.
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.
This manuscript has been published in "Clinical Dysmorphology".
Must be cited as follows:
Fernández-Fructuoso JR, De la Torre-Sandoval C, Harbison MD, Chantot-Bastaraud S, Temple K, Lloreda-Garcia JM, Olmo-Sanchez M, Netchine I. Silver Russell syndrome in a preterm girl with 8q12.1 deletion encompassing PLAG1. Clin Dysmorphol. 2021 Oct 1;30(4):194-196. doi: 10.1097/MCD.0000000000000375. PMID: 34480472.