{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T09:55:46Z","timestamp":1790416546365,"version":"4.1.0"},"reference-count":11,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2015,11,3]],"date-time":"2015-11-03T00:00:00Z","timestamp":1446508800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2016,2]]},"abstract":"<jats:sec><jats:label\/><jats:p>Five cases of recognizable \u201cIntra\u2010uterine\u201d dwarfism with cranio\u2010facial dysostosis, disproportionately short arms, and other anomalies were written up by endocrinologist, Dr. Alex Russell in 1954. The syndrome he described went on to be named Russell\u2013Silver syndrome. This report gives further information about the life and medical history of the most pictorially documented boy that Dr. Russell originally described in his seminal paper. The gentleman is now 69 years old and we believe him to be the oldest person known to date to have Russell\u2013Silver syndrome. The article includes information relating to his development of type 2 diabetes mellitus, osteopenia, testosterone deficiency, and hypercholesterolemia. Methylation studies have now confirmed the diagnosis of Russell\u2013Silver syndrome by demonstrating partial hypomethylation at the H19 Locus at IGF2P0 on chromosome 11. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37442","type":"journal-article","created":{"date-parts":[[2015,11,3]],"date-time":"2015-11-03T07:39:11Z","timestamp":1446536351000},"page":"466-470","source":"Crossref","is-referenced-by-count":13,"title":["Russel\u2013Silver syndrome: A historical note and comment on an older adult"],"prefix":"10.1002","volume":"170","author":[{"given":"Claire","family":"Searle","sequence":"first","affiliation":[{"name":"Clinical Genetics Nottingham University Hospital United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diana","family":"Johnson","sequence":"additional","affiliation":[{"name":"Clinical Genetics Sheffield Children's Hospital United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2015,11,3]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10667"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1086\/502981"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2011-3058"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.2174\/1874210601206010131"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1080\/09084280701322684"},{"key":"e_1_2_6_7_1","first-page":"837","article-title":"The spectrum of Silver\u2010Russell syndrome: A clinical and molecular genetic study and new diagnostic criteria","volume":"36","author":"Price SM","year":"1999","journal-title":"J Med Genet"},{"key":"e_1_2_6_8_1","first-page":"1040","article-title":"Syndrome of intra\u2010uterine dwarfism recognizable at birth with cranio\u2010facial dysostosis, disproportionately short arms, and other anomalies (5 examples)","volume":"47","author":"Russell A","year":"1954","journal-title":"Proc R Soc Med"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.carpath.2013.08.004"},{"key":"e_1_2_6_10_1","doi-asserted-by":"crossref","first-page":"368","DOI":"10.1542\/peds.12.4.368","article-title":"Syndrome of congenital hemihypertrophy, shortness of stature and elevated urinary gonadotrophins","volume":"12","author":"Silver HK","year":"1953","journal-title":"Pediatrics"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2010.079111"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01958638"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.37442","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.37442","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T20:06:08Z","timestamp":1696622768000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.37442"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,11,3]]},"references-count":11,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2016,2]]}},"alternative-id":["10.1002\/ajmg.a.37442"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.37442","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,11,3]]}}}