{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T12:02:33Z","timestamp":1792152153959,"version":"4.4.0"},"reference-count":18,"publisher":"BMJ","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1994,6]]},"abstract":"<jats:p>Costello syndrome is emerging as a better delineated condition and should be included in the differential diagnosis of cutis laxa in association with postnatal growth retardation and developmental delay. We present a further case of Costello syndrome which illustrates the natural history of this condition.<\/jats:p>","DOI":"10.1136\/jmg.31.6.486","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:23:16Z","timestamp":1226330596000},"page":"486-489","source":"Crossref","is-referenced-by-count":40,"title":["Costello syndrome: natural history and differential diagnosis of cutis laxa."],"prefix":"10.1136","volume":"31","author":[{"given":"S J","family":"Davies","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H E","family":"Hughes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1994,6,1]]},"reference":[{"key":"ref_1","article-title":"There were no further reports to allow more detailed delineation of the condition until Der Kaloustian et al3 and Martin and Lyons Jones4 described two additional cases in 1991. Increasing awareness of this syndrome has led to a number of case reports5-8 and has opened debate on whether or not the new syndrome of multiple congenital anomaly with mental retardation and facio-cutaneousskeletal involvement described by Borochowitz et al9 in 1992 is in fact Costello syndrome.7 1012","unstructured":"There were no further reports to allow more detailed delineation of the condition until Der Kaloustian et al3 and Martin and Lyons Jones4 described two additional cases in 1991. Increasing awareness of this syndrome has led to a number of case reports5-8 and has opened debate on whether or not the new syndrome of multiple congenital anomaly with mental retardation and facio-cutaneousskeletal involvement described by Borochowitz et al9 in 1992 is in fact Costello syndrome.7 1012"},{"key":"ref_2","first-page":"397","article-title":"A new syndrome","volume":"74","author":"Costello, J.M.","year":"1971","unstructured":"Costello JM. A new syndrome. NZ Med J 1971;74:397.","journal-title":"NZ Med J"},{"key":"ref_3","first-page":"114","article-title":"A new syndrome: mental subnormality and nasal papillomata","volume":"13","author":"Costello, J.M.","year":"1977","unstructured":"Costello JM. A new syndrome: mental subnormality and nasal papillomata. Aust Paediatr J 1977;13:114-18.","journal-title":"Aust Paediatr J"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1002\/ajmg.1320410118","article-title":"Costello syndrome","volume":"41","author":"VM, Der Kaloustian; B, Moroz; N, McIntosh; AK, Watters; S, Blaichman","year":"1991","unstructured":"Der Kaloustian VM, Moroz B, McIntosh N, Watters AK, Blaichman S. Costello syndrome. 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Am 7 Med Genet 1993;47:174-5.","journal-title":"Am 7 Med Genet"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"176","DOI":"10.1002\/ajmg.1320470210","article-title":"Costello syndrome: further clinical delineation, natural history, genetic definition, and nosology","volume":"47","author":"Zampino, G.; Mastroiacovo, P.; Ricci, R.","year":"1993","unstructured":"Zampino G, Mastroiacovo P, Ricci R, et al. Costello syndrome: further clinical delineation, natural history, genetic definition, and nosology. Am Med Genet 1993;47: 176-83.","journal-title":"Am Med Genet"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"678","DOI":"10.1002\/ajmg.1320430405","article-title":"New multiple congenital anomalies: mental retardation syndrome (MCA\/MR) with facio-cutaneous-skeletal involvement","volume":"43","author":"Borochowitz, Z.; Pavone, L.; Mazor, G.; Rizzo, R.; Dar, H.","year":"1992","unstructured":"Borochowitz Z, Pavone L, Mazor G, Rizzo R, Dar H. 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Proc Greenwood Genetic Center 1991;10:98."}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.31.6.486","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T07:34:09Z","timestamp":1760772849000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.31.6.486"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1994,6]]},"references-count":18,"journal-issue":{"issue":"6","published-online":{"date-parts":[[1994,6,1]]},"published-print":{"date-parts":[[1994,6]]}},"alternative-id":["10.1136\/jmg.31.6.486"],"URL":"https:\/\/doi.org\/10.1136\/jmg.31.6.486","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1994,6]]}}}