Perinatal features of children with Silver-Russell syndrome due to 11p15 loss of methylation

• DOI: 10.3389/fped.2024.1367433
• Publication Date: 2024-04-04T05:12:51Z
• Authors: Diane Darneau; Eloïse Giabicani; Irène Netchine; Aurélie Pham
• Keywords: Growth restriction; Intrauterine growth restriction; Placental insufficiency

Background A diagnosis of Silver–Russell syndrome (SRS), a rare imprinting disorder responsible for foetal growth restriction, is considered patients presenting at least four criteria the Netchine-Harbison clinical scoring system (NH-CSS). Certain items NH-CSS are not assessable until age 2 years. The objective was to determine perinatal characteristics children with SRS allow an early diagnosis. Methods We retrospectively compared ( n = 17) those newborns small gestational (SGA) due placental insufficiency (PI) 21). Results Children showed earlier and more severely altered biometry than SGA PI. Twenty-three percent uterine artery Doppler anomalies. were significantly smaller birth (birth length <-3 SDS in 77% cases group vs. 15% PI group, p 0.0001). Conclusion must be evoked neonatal period delay present from second trimester pregnancy, relative macrocephaly. anomalies, classically used orient cause towards PI, did rule out SRS.