Journal of Japan Society of Perinatal and Neonatal Medicine
Online ISSN : 2435-4996
Print ISSN : 1348-964X
Case reports
A case of Silver-Russell syndrome observed in only one child who shared the placenta of dichorionic triamniotic triplets.
Takako AraiNaoya MorisadaHitomi MimuraTomoko KiharaMegumi KanekoShino KubotaMasuyo MatsumotoShinya TairakuKana HiromotoSeiji YoshimotoToru Funakoshi
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2025 Volume 61 Issue 1 Pages 174-179

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Abstract

 Silver-Russell syndrome(SRS)is a congenital imprinting disorder characterized by severe fetal growth restriction and postnatal growth retardation, relative macrocephaly, body asymmetry. Most causes of SRS are hypomethylation of the imprinting center region 1(ICR1, H19/IGF2: IG-DMR). We report a case of SRS in only one child who shared the placenta of dichorionic triamniotic triplets. The patient’s mother was 33-year-old nulliparous woman. She was diagnosed dichorionic triamniotic triplets and referred our hospital at 11 weeks of gestation. At 21 weeks of gestation, fetal growth restriction(FGR)was observed in both fetuses sharing one placenta. At 30 weeks of gestation, an emergency cesarean section was performed due to increased uterine contractions and maternal liver dysfunction. Her second child was suspected of having SRS due to postnatal growth retardation and distinct physical features characteristic of the condition, and the diagnosis was definitively confirmed through methylation analysis. It only occurred in one child of the triplets, it was possible that the epigenetic events occurred after the embryo divided into two inner cell masses, or that the twins were dizygotic monochorionic twins.

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© 2025 Journal of Japan Society of Perinatal and Neonatal Medicine
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