Perinatal features of children with Silver-Russell syndrome due to 11p15 loss of methylation.
Silver–Russel syndrome
foetal growth restriction (FGR)
neonatal care
placental insufficiency (PI)
small for gestation age (SGA)
Journal
Frontiers in pediatrics
ISSN: 2296-2360
Titre abrégé: Front Pediatr
Pays: Switzerland
ID NLM: 101615492
Informations de publication
Date de publication:
2024
2024
Historique:
received:
08
01
2024
accepted:
19
03
2024
medline:
19
4
2024
pubmed:
19
4
2024
entrez:
19
4
2024
Statut:
epublish
Résumé
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 ( 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 <-3 SDS in 77% of cases in the SRS group vs. 15% in the PI group, 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 <-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.
Sections du résumé
Background
UNASSIGNED
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.
Methods
UNASSIGNED
We retrospectively compared the perinatal characteristics of children with SRS (
Results
UNASSIGNED
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 <-3 SDS in 77% of cases in the SRS group vs. 15% in the PI group,
Conclusion
UNASSIGNED
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 <-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.
Identifiants
pubmed: 38638586
doi: 10.3389/fped.2024.1367433
pmc: PMC11024461
doi:
Types de publication
Journal Article
Langues
eng
Pagination
1367433Informations de copyright
© 2024 Darneau, Giabicani, Netchine and Pham.
Déclaration de conflit d'intérêts
The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
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