{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T19:48:51Z","timestamp":1791229731284,"version":"4.1.0"},"reference-count":38,"publisher":"The Endocrine Society","issue":"8","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2007,8,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Context: Russell-Silver syndrome (RSS), characterized by intrauterine and postnatal growth retardation, dysmorphic features, and frequent body asymmetry, spares cranial growth. Maternal uniparental disomy for chromosome 7 (mUPD7) is found in 5\u201310% of cases. We identified loss of methylation (LOM) of 11p15 Imprinting Center Region 1 (ICR1) domain (including IGF-II) as a mechanism leading to RSS.<\/jats:p>\n                  <jats:p>Objective: The aim was to screen for 11p15 epimutation and mUPD7 in RSS and non-RSS small-for-gestational-age (SGA) patients and identify epigenetic-phenotypic correlations.<\/jats:p>\n                  <jats:p>Studied Population and Methods: A total of 127 SGA patients were analyzed. Clinical diagnosis of RSS was established when the criterion of being SGA was associated with at least three of five criteria: postnatal growth retardation, relative macrocephaly, prominent forehead, body asymmetry, and feeding difficulties. Serum IGF-II was evaluated for 82 patients.<\/jats:p>\n                  <jats:p>Results: Of the 127 SGA patients, 58 were diagnosed with RSS; 37 of these (63.8%) displayed partial LOM of the 11p15 ICR1 domain, and three (5.2%) had mUPD7. No molecular abnormalities were found in the non-RSS SGA group (n = 69). Birth weight, birth length, and postnatal body mass index (BMI) were lower in the abnormal 11p15 RSS group (ab-ICR1-RSS) than in the normal 11p15 RSS group [\u22123.4 vs.\u22122.6 sd score (SDS), \u22124.4 vs.\u22123.4 SDS, and \u22122.5 vs.\u22121.6 SDS, respectively; P &amp;lt; 0.05]. Among RSS patients, prominent forehead, relative macrocephaly, body asymmetry, and low BMI were significantly associated with ICR1 LOM. All ab-ICR1-RSS patients had at least four of five criteria of the scoring system. Postnatal IGF-II levels were within normal values.<\/jats:p>\n                  <jats:p>Conclusion: The 11p15 ICR1 epimutation is a major, specific cause of RSS exhibiting failure to thrive. We propose a clinical scoring system (including a BMI &amp;lt; \u22122 SDS), highly predictive of 11p15 ICR1 LOM, for the diagnosis of RSS.<\/jats:p>","DOI":"10.1210\/jc.2007-0354","type":"journal-article","created":{"date-parts":[[2007,5,15]],"date-time":"2007-05-15T21:10:58Z","timestamp":1179263458000},"page":"3148-3154","source":"Crossref","is-referenced-by-count":241,"title":["11p15 Imprinting Center Region 1 Loss of Methylation Is a Common and Specific Cause of Typical Russell-Silver Syndrome: Clinical Scoring System and Epigenetic-Phenotypic Correlations"],"prefix":"10.1210","volume":"92","author":[{"given":"Ire\u0300ne","family":"Netchine","sequence":"first","affiliation":[{"name":"Institut National de la Sante\u0301 et de la Recherche Me\u0301dicale U 515 (I.N., S.R., M.-N.D., S.A., V.S., C.G., S.C., Y.L.B.), 75012 Paris, France"},{"name":"Department of Universite\u0301 Pierre et Marie Curie-Paris 6 (I.N., S.R., M.-N.D., S.A., A.R., C.G., Y.L.B.), 75012 Paris, France"},{"name":"Department of Assistance Publique Ho\u0302pitaux de Paris, Ho\u0302pital Armand-Trousseau, Explorations Fonctionnelles Endocriniennes (I.N., S.R., M.-N.D., L.P., M.H., B.E., N.T., M.-C.R.D., F.D., C.G., S.C., Y.L.B.), 75012 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sylvie","family":"Rossignol","sequence":"additional","affiliation":[{"name":"Institut National de la Sante\u0301 et de la Recherche Me\u0301dicale U 515 (I.N., S.R., M.-N.D., S.A., V.S., C.G., S.C., Y.L.B.), 75012 Paris, France"},{"name":"Department of Universite\u0301 Pierre et Marie Curie-Paris 6 (I.N., S.R., M.-N.D., S.A., A.R., C.G., Y.L.B.), 75012 Paris, France"},{"name":"Department of Assistance Publique Ho\u0302pitaux de Paris, Ho\u0302pital Armand-Trousseau, Explorations Fonctionnelles Endocriniennes (I.N., S.R., M.-N.D., L.P., M.H., B.E., N.T., M.-C.R.D., F.D., C.G., S.C., Y.L.B.), 75012 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie-Noe\u0308lle","family":"Dufourg","sequence":"additional","affiliation":[{"name":"Institut National de la Sante\u0301 et de la Recherche Me\u0301dicale U 515 (I.N., S.R., M.-N.D., S.A., V.S., C.G., S.C., Y.L.B.), 75012 Paris, France"},{"name":"Department of Universite\u0301 Pierre et Marie Curie-Paris 6 (I.N., S.R., M.-N.D., S.A., A.R., C.G., Y.L.B.), 75012 Paris, France"},{"name":"Department of Assistance Publique Ho\u0302pitaux de Paris, Ho\u0302pital Armand-Trousseau, Explorations Fonctionnelles Endocriniennes (I.N., S.R., M.-N.D., L.P., M.H., B.E., N.T., M.-C.R.D., F.D., C.G., S.C., Y.L.B.), 75012 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Salah","family":"Azzi","sequence":"additional","affiliation":[{"name":"Institut National de la Sante\u0301 et de la Recherche Me\u0301dicale U 515 (I.N., S.R., M.-N.D., S.A., V.S., C.G., S.C., Y.L.B.), 75012 Paris, France"},{"name":"Department of Universite\u0301 Pierre et Marie Curie-Paris 6 (I.N., S.R., M.-N.D., S.A., A.R., C.G., Y.L.B.), 75012 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexandra","family":"Rousseau","sequence":"additional","affiliation":[{"name":"Department of Universite\u0301 Pierre et Marie Curie-Paris 6 (I.N., S.R., M.-N.D., S.A., A.R., C.G., Y.L.B.), 75012 Paris, France"},{"name":"Department of Ho\u0302pital Saint-Antoine-URCEST, Departement of Pharmacology (A.R.), 75012 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laurence","family":"Perin","sequence":"additional","affiliation":[{"name":"Department of Assistance Publique Ho\u0302pitaux de Paris, Ho\u0302pital Armand-Trousseau, Explorations Fonctionnelles Endocriniennes (I.N., S.R., M.-N.D., L.P., M.H., B.E., N.T., M.-C.R.D., F.D., C.G., S.C., Y.L.B.), 75012 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Muriel","family":"Houang","sequence":"additional","affiliation":[{"name":"Department of Assistance Publique Ho\u0302pitaux de Paris, Ho\u0302pital Armand-Trousseau, Explorations Fonctionnelles Endocriniennes (I.N., S.R., M.-N.D., L.P., M.H., B.E., N.T., M.-C.R.D., F.D., C.G., S.C., Y.L.B.), 75012 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Virginie","family":"Steunou","sequence":"additional","affiliation":[{"name":"Institut National de la Sante\u0301 et de la Recherche Me\u0301dicale U 515 (I.N., S.R., M.-N.D., S.A., V.S., C.G., S.C., Y.L.B.), 75012 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Blandine","family":"Esteva","sequence":"additional","affiliation":[{"name":"Department of Assistance Publique Ho\u0302pitaux de Paris, Ho\u0302pital Armand-Trousseau, Explorations Fonctionnelles Endocriniennes (I.N., S.R., M.-N.D., L.P., M.H., B.E., N.T., 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