TY - JOUR
T1 - Silver Russell syndrome in a preterm girl with 8q12.1 deletion encompassing PLAG1
AU - Fernández-Fructuoso, José Ramón
AU - De La Torre-Sandoval, Cristina
AU - Harbison, Madeleine D.
AU - Chantot-Bastaraud, Sandra
AU - Temple, Karen
AU - Lloreda-Garcia, Jose Maria
AU - Olmo-Sanchez, Maria
AU - Netchine, Irene
N1 - Publisher Copyright:
Copyright © 2021 Wolters Kluwer Health, Inc. All rights reserved.
PY - 2021/10/1
Y1 - 2021/10/1
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=85115033613&partnerID=8YFLogxK
U2 - 10.1097/MCD.0000000000000375
DO - 10.1097/MCD.0000000000000375
M3 - Article
C2 - 34480472
AN - SCOPUS:85115033613
SN - 0962-8827
VL - 30
SP - 194
EP - 196
JO - Clinical Dysmorphology
JF - Clinical Dysmorphology
IS - 4
ER -