Perinatal features of children with Silver-Russell syndrome due to 11p15 loss of methylation
| Autor: | Diane Darneau, Eloïse Giabicani, Irène Netchine, Aurélie Pham |
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| Jazyk: | angličtina |
| Rok vydání: | 2024 |
| Předmět: | |
| Zdroj: | Frontiers in Pediatrics, Vol 12 (2024) |
| Druh dokumentu: | article |
| ISSN: | 2296-2360 76340015 |
| DOI: | 10.3389/fped.2024.1367433 |
| Popis: | 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 |
| Databáze: | Directory of Open Access Journals |
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