Silver Russell syndrome in a preterm girl with 8q12.1 deletion encompassing PLAG1 - Archive ouverte HAL Access content directly
Journal Articles Clinical Dysmorphology Year : 2021

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

(1) , (1) , (2) , (3, 4) , (5) , (1) , (1) , (6)
1
2
3
4
5
6

Abstract

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.

Dates and versions

inserm-03841371 , version 1 (07-11-2022)

Identifiers

Cite

José Ramón Fernández-Fructuoso, Cristina de la Torre-Sandoval, Madeleine Harbison, Sandra Chantot-Bastaraud, Karen Temple, et al.. Silver Russell syndrome in a preterm girl with 8q12.1 deletion encompassing PLAG1. Clinical Dysmorphology, 2021, 30 (4), pp.194-196. ⟨10.1097/MCD.0000000000000375⟩. ⟨inserm-03841371⟩
0 View
0 Download

Altmetric

Share

Gmail Facebook Twitter LinkedIn More