AUTHOR=Darneau Diane , Giabicani Eloïse , Netchine Irène , Pham Aurélie 

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

JOURNAL=Frontiers in Pediatrics

VOLUME=12

YEAR=2024

URL=https://www.frontiersin.org/journals/pediatrics/articles/10.3389/fped.2024.1367433

DOI=10.3389/fped.2024.1367433

ISSN=2296-2360

ABSTRACT=<sec><title>Background</title><p>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.</p></sec><sec><title>Methods</title><p>We retrospectively compared the perinatal characteristics of children with SRS (<italic>n</italic> = 17) with those of newborns small for gestational age (SGA) due to placental insufficiency (PI) (<italic>n</italic> = 21).</p></sec><sec><title>Results</title><p>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 &lt;-3 SDS in 77% of cases in the SRS group vs. 15% in the PI group, <italic>p</italic> = 0.0001).</p></sec><sec><title>Conclusion</title><p>The diagnosis of SRS must be evoked in the neonatal period for SGA newborns with a growth delay present from the second trimester of pregnancy, a birth length &lt;-3 SDS and a relative macrocephaly. Doppler anomalies, classically used to orient the cause of SGA towards PI, did not rule out the diagnosis of SRS.</p></sec>