hrp0097p1-131 | Growth and Syndromes | ESPE2023

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

Darneau Diane , Giabicani Eloïse , Netchine Irène , Pham Aurélie

Context: Silver-Russell syndrome (SRS) is a rare imprinting disorder responsible for foetal and postnatal growth restriction. It is a clinical diagnosis based on Netchine-Harbison clinical scoring system in patients presenting with ≥ 4 items out of 6. Some of the items in this score are not assessable until the age of two years, such as growth retardation or feeding difficulties and body asymmetry can be difficult to identify in the first months of life. Ch...