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

A diagnosis of Silver-Russell syndrome (SRS), a rare imprinting disorder responsible for foetal growth restriction, is considered for patients presenting at least four criteria of the Netchine-Harbison clinical scoring system (NH-CSS). Certain items of the NH-CSS are not assessable until the age of 2 years. The objective was to determine perinatal characteristics of children with SRS to allow an early diagnosis. We retrospectively compared the perinatal characteristics of children with SRS ( = 17) with those of newborns small for gestational age (SGA) due to placental insufficiency (PI) ( = 21). Children with SRS showed earlier and more severely altered foetal biometry than SGA newborns due to PI. Twenty-three percent of patients with SRS showed uterine artery Doppler anomalies. SRS children were significantly smaller at birth (birth length