{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,28]],"date-time":"2025-10-28T10:29:10Z","timestamp":1761647350876},"reference-count":8,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2005,6,7]],"date-time":"2005-06-07T00:00:00Z","timestamp":1118102400000},"content-version":"vor","delay-in-days":4041,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1994,5,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Patients with Sotos and Marfan syndrome have unusually long metacarpals and phalanges which may make the differential diagnosis difficult in younger children. Using <jats:italic>Q<\/jats:italic>\u2010scores, we compared metacarpophalangeal pattern profile (MCPP) analysis in these two syndromes and identified distinct and different pattern profiles. This illustrates that the MCPPs are specific in these syndromes, even at an early age, and not related solely to the unusually long metacarpals and phalanges. For this study we used data from 50 Sotos patients (34 from the United Kingdom and 16 from the Netherlands, with a total of 95 hand films) and 36 Marfan patients (from the Netherlands, with 98 hand films). Of all patients over age 3 years the bone length (including the epiphysis) was determined. The patients under 7\u00bd years (29 Sotos and 12 Marfan) were also measured without inclusion of the epiphysis. The patients measured <jats:italic>without<\/jats:italic> epiphysis had a relative short metacarpal 1 (MC1) and long distal phalanx 1 (DPh1) in Sotos syndrome, and a relative long MC1 and short DPh1 in Marfan syndrome. Between age 3 and 7\u00bd years more than 90% of the films could be classified correctly using these two variables. Of the roentgenograms measured <jats:italic>with<\/jats:italic> epiphyses, about 80% were classified correctly. \u00a9 1994 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320510113","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T17:11:28Z","timestamp":1118509888000},"page":"55-60","source":"Crossref","is-referenced-by-count":14,"title":["Metacarpophalangeal pattern profile analysis in Sotos and Marfan syndrome"],"prefix":"10.1002","volume":"51","author":[{"given":"P. F.","family":"Dijkstra","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T. R. P.","family":"Cole","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J. W. E.","family":"Oorthuys","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H. W.","family":"Venema","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Oosting","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R. E. T.","family":"Nocker","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,7]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320290316"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.27.9.571"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-2008-1052786"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320400123"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320430627"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1148\/105.2.375"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1148\/104.1.1"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00451898"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320510113","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320510113","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,24]],"date-time":"2023-10-24T07:19:25Z","timestamp":1698131965000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320510113"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1994,5,15]]},"references-count":8,"journal-issue":{"issue":"1","published-print":{"date-parts":[[1994,5,15]]}},"alternative-id":["10.1002\/ajmg.1320510113"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320510113","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1994,5,15]]}}}