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, Karen Temple, Jose Maria Lloreda-Garcia, Maria Olmo-Sanchez, Irene Netchine

Research output: Contribution to journalArticlepeer-review

2 Scopus citations

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.

Original languageEnglish
Pages (from-to)194-196
Number of pages3
JournalClinical Dysmorphology
DOIs
StateAccepted/In press - 2021

Fingerprint

Dive into the research topics of 'Silver Russell syndrome in a preterm girl with 8q12.1 deletion encompassing PLAG1'. Together they form a unique fingerprint.

Cite this