Perinatal features of children with Silver-Russell syndrome due to 11p15 loss of methylation
BackgroundA 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 t...
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2024-04-01
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| Series: | Frontiers in Pediatrics |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fped.2024.1367433/full |
| _version_ | 1797224057517637632 |
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| author | Diane Darneau Eloïse Giabicani Irène Netchine Aurélie Pham |
| author_facet | Diane Darneau Eloïse Giabicani Irène Netchine Aurélie Pham |
| author_sort | Diane Darneau |
| collection | DOAJ |
| description | BackgroundA 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.MethodsWe retrospectively compared the perinatal characteristics of children with SRS (n = 17) with those of newborns small for gestational age (SGA) due to placental insufficiency (PI) (n = 21).ResultsChildren 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, p = 0.0001).ConclusionThe 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. |
| first_indexed | 2024-04-24T13:47:04Z |
| format | Article |
| id | doaj.art-58f23c08809e4255902c7634001592ee |
| institution | Directory Open Access Journal |
| issn | 2296-2360 |
| language | English |
| last_indexed | 2024-04-24T13:47:04Z |
| publishDate | 2024-04-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Pediatrics |
| spelling | doaj.art-58f23c08809e4255902c7634001592ee2024-04-04T05:08:25ZengFrontiers Media S.A.Frontiers in Pediatrics2296-23602024-04-011210.3389/fped.2024.13674331367433Perinatal features of children with Silver-Russell syndrome due to 11p15 loss of methylationDiane Darneau0Eloïse Giabicani1Irène Netchine2Aurélie Pham3Sorbonne Université, INSERM, Centre de Recherche Saint-Antoine, APHP, Hôpital Armand Trousseau, Endocrinologie Moléculaire et Pathologies d’Empreinte, Paris, FranceSorbonne Université, INSERM, Centre de Recherche Saint-Antoine, APHP, Hôpital Armand Trousseau, Endocrinologie Moléculaire et Pathologies d’Empreinte, Paris, FranceSorbonne Université, INSERM, Centre de Recherche Saint-Antoine, APHP, Hôpital Armand Trousseau, Endocrinologie Moléculaire et Pathologies d’Empreinte, Paris, FranceSorbonne Université, INSERM, Centre de Recherche Saint-Antoine, APHP, Hôpital Armand Trousseau, Service de Néonatologie, Paris, FranceBackgroundA 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.MethodsWe retrospectively compared the perinatal characteristics of children with SRS (n = 17) with those of newborns small for gestational age (SGA) due to placental insufficiency (PI) (n = 21).ResultsChildren 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, p = 0.0001).ConclusionThe 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.https://www.frontiersin.org/articles/10.3389/fped.2024.1367433/fullfoetal growth restriction (FGR)small for gestation age (SGA)Silver–Russel syndromeneonatal careplacental insufficiency (PI) |
| spellingShingle | Diane Darneau Eloïse Giabicani Irène Netchine Aurélie Pham Perinatal features of children with Silver-Russell syndrome due to 11p15 loss of methylation Frontiers in Pediatrics foetal growth restriction (FGR) small for gestation age (SGA) Silver–Russel syndrome neonatal care placental insufficiency (PI) |
| title | Perinatal features of children with Silver-Russell syndrome due to 11p15 loss of methylation |
| title_full | Perinatal features of children with Silver-Russell syndrome due to 11p15 loss of methylation |
| title_fullStr | Perinatal features of children with Silver-Russell syndrome due to 11p15 loss of methylation |
| title_full_unstemmed | Perinatal features of children with Silver-Russell syndrome due to 11p15 loss of methylation |
| title_short | Perinatal features of children with Silver-Russell syndrome due to 11p15 loss of methylation |
| title_sort | perinatal features of children with silver russell syndrome due to 11p15 loss of methylation |
| topic | foetal growth restriction (FGR) small for gestation age (SGA) Silver–Russel syndrome neonatal care placental insufficiency (PI) |
| url | https://www.frontiersin.org/articles/10.3389/fped.2024.1367433/full |
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