{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,22]],"date-time":"2026-07-22T11:03:58Z","timestamp":1784718238076,"version":"3.55.0"},"reference-count":21,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2024,4,4]],"date-time":"2024-04-04T00:00:00Z","timestamp":1712188800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Pediatr."],"abstract":"<jats:sec><jats:title>Background<\/jats:title><jats:p>A diagnosis of Silver\u2013Russell 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.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We retrospectively compared the perinatal characteristics of children with SRS (<jats:italic>n<\/jats:italic>\u2009=\u200917) with those of newborns small for gestational age (SGA) due to placental insufficiency (PI) (<jats:italic>n<\/jats:italic>\u2009=\u200921).<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats: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 &amp;lt;-3 SDS in 77% of cases in the SRS group vs. 15% in the PI group, <jats:italic>p<\/jats:italic>\u2009=\u20090.0001).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats: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 &amp;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.<\/jats:p><\/jats:sec>","DOI":"10.3389\/fped.2024.1367433","type":"journal-article","created":{"date-parts":[[2024,4,4]],"date-time":"2024-04-04T05:12:51Z","timestamp":1712207571000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":4,"title":["Perinatal features of children with Silver-Russell syndrome due to 11p15 loss of methylation"],"prefix":"10.3389","volume":"12","author":[{"given":"Diane","family":"Darneau","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elo\u00efse","family":"Giabicani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ir\u00e8ne","family":"Netchine","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aur\u00e9lie","family":"Pham","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2024,4,4]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"333","DOI":"10.1002\/uog.15884","article-title":"Consensus definition of fetal growth restriction: a Delphi procedure","volume":"48","author":"Gordijn","year":"2016","journal-title":"Ultrasound Obstet Gynecol"},{"key":"B2","doi-asserted-by":"publisher","first-page":"e97","DOI":"10.1097\/AOG.0000000000003070","article-title":"ACOG practice bulletin no. 204: fetal growth restriction","volume":"133","year":"2019","journal-title":"Obstet Gynecol"},{"key":"B3","doi-asserted-by":"publisher","first-page":"523","DOI":"10.1016\/j.beem.2018.03.013","article-title":"Diagnosis and management of postnatal fetal growth restriction","volume":"32","author":"Giabicani","year":"2018","journal-title":"Best Pract Res Clin Endocrinol Metab"},{"key":"B4","doi-asserted-by":"publisher","first-page":"804","DOI":"10.1210\/jc.2006-2017","article-title":"Management of the child born small for gestational age through to adulthood: a consensus statement of the international societies of pediatric endocrinology and the growth hormone research society","volume":"92","author":"Clayton","year":"2007","journal-title":"J Clin Endocrinol Metab"},{"key":"B5","doi-asserted-by":"publisher","first-page":"S54","DOI":"10.1016\/j.respe.2018.01.126","article-title":"Les maternit\u00e9s en 2016: r\u00e9sultats de l\u2019enqu\u00eate nationale p\u00e9rinatale (ENP)","volume":"66","author":"Vanhaesebrouck","year":"2018","journal-title":"Revue D\u2019\u00c9pid\u00e9miologie et de Sant\u00e9 Publique"},{"key":"B6","doi-asserted-by":"publisher","first-page":"1061","DOI":"10.1007\/s00404-017-4341-9","article-title":"Fetal growth restriction: current knowledge","volume":"295","author":"Nardozza","year":"2017","journal-title":"Arch Gynecol Obstet"},{"key":"B7","doi-asserted-by":"publisher","first-page":"78","DOI":"10.1038\/345078a0","article-title":"A growth-deficiency phenotype in heterozygous mice carrying an insulin-like growth factor II gene disrupted by targeting","volume":"345","author":"DeChiara","year":"1990","journal-title":"Nature"},{"key":"B8","doi-asserted-by":"publisher","first-page":"105","DOI":"10.1038\/nrendo.2016.138","article-title":"Diagnosis and management of Silver\u2013Russell syndrome: first international consensus statement","volume":"13","author":"Wakeling","year":"2017","journal-title":"Nat Rev Endocrinol"},{"key":"B9","doi-asserted-by":"publisher","first-page":"446","DOI":"10.1136\/jmedgenet-2014-102979","article-title":"A prospective study validating a clinical scoring system and demonstrating phenotypical-genotypical correlations in Silver-Russell syndrome","volume":"52","author":"Azzi","year":"2015","journal-title":"J Med Genet"},{"key":"B10","doi-asserted-by":"publisher","first-page":"e60105","DOI":"10.1371\/journal.pone.0060105","article-title":"Molecular and clinical studies in 138 Japanese patients with Silver-Russell syndrome","volume":"8","author":"Fuke","year":"2013","journal-title":"PLoS One"},{"key":"B11","doi-asserted-by":"publisher","first-page":"333","DOI":"10.1016\/0002-9378(85)90298-4","article-title":"Estimation of fetal weight with the use of head, body, and femur measurements\u2013a prospective study","volume":"151","author":"Hadlock","year":"1985","journal-title":"Am J Obstet Gynecol"},{"key":"B12","first-page":"61","article-title":"Croissance f\u0153tale \u00e0 partir de l\u2019\u00e9tude AUDIPOG. 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