{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T16:11:52Z","timestamp":1792167112831,"version":"4.4.0"},"reference-count":17,"publisher":"BMJ","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1985,6]]},"abstract":"<jats:p>A male child with features of the Russell-Silver syndrome, including pre- and postnatal growth delay, triangular facies, bilateral fifth finger clinodactyly, and disproportionate lower extremities, was found to have a ring chromosome 15 in all peripheral leucocytes examined. Review of the reported cases of ring chromosome 15 defines a malformation syndrome with a characteristic facies related to deletion of the 15q26.2----qter region. Russell-Silver and ring 15 syndromes share clinical features such as growth deficiency, triangular facies, digital anomalies, and caf\u00e9-au-lait spots. Microcephaly, mental retardation, facial dysmorphology, limb anomalies, and cardiac defects are more striking in ring chromosome 15 patients and are indications for karyotyping when found in conjunction with the Russell-Silver phenotype.<\/jats:p>","DOI":"10.1136\/jmg.22.3.233","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:09:16Z","timestamp":1226329756000},"page":"233-236","source":"Crossref","is-referenced-by-count":42,"title":["Phenotypic delineation of ring chromosome 15 and Russell-Silver syndromes."],"prefix":"10.1136","volume":"22","author":[{"given":"G N","family":"Wilson","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S E","family":"Sauder","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M","family":"Bush","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"I Z","family":"Beitins","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1985,6,1]]},"reference":[{"key":"ref_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 elevatcd urinary gonadotrophins","volume":"12","author":"Silver, H.; Kiyasu, W.; Georgc, J.; Deamer, W.","year":"1953","unstructured":"Silver H, Kiyasu W, Georgc J, Deamer W. Syndrome of congenital hemihypertrophy, shortness of stature and elevatcd urinary gonadotrophins. Pediatrics 1953;12:368-76.","journal-title":"Pediatrics"},{"key":"ref_2","first-page":"1040","article-title":"A syndromc of 'intrauterine' dwarfism recognizablc at birth with cranio-facial dysostosis, disproportionately short arms, and other","volume-title":"anomalies (5 examples). Proc R Soc Med","volume":"47","author":"Russell, A.","year":"1954","unstructured":"Russell A. A syndromc of 'intrauterine' dwarfism recognizablc at birth with cranio-facial dysostosis, disproportionately short arms, and other anomalies (5 examples). Proc R Soc Med 1954;47:1040-4."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"447","DOI":"10.1001\/archpedi.1977.02120170073015","article-title":"The Silver-Russell syndrome","volume":"131","author":"Marks, L.J.; Bergeson, P.S.","year":"1977","unstructured":"Marks LJ, Bergeson PS. The Silver-Russell syndrome. 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J Craniofacial Genet Dev Biol 1983;3:313-6.","journal-title":"Trisomy"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.22.3.233","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T04:59:00Z","timestamp":1760763540000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.22.3.233"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1985,6]]},"references-count":17,"journal-issue":{"issue":"3","published-online":{"date-parts":[[1985,6,1]]},"published-print":{"date-parts":[[1985,6]]}},"alternative-id":["10.1136\/jmg.22.3.233"],"URL":"https:\/\/doi.org\/10.1136\/jmg.22.3.233","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1985,6]]}}}