{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,23]],"date-time":"2026-02-23T17:11:36Z","timestamp":1771866696950,"version":"3.50.1"},"reference-count":17,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2005,6,7]],"date-time":"2005-06-07T00:00:00Z","timestamp":1118102400000},"content-version":"vor","delay-in-days":4283,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1993,9,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Many patients with Williams syndrome (WS) are not diagnosed until they are old enough to demonstrate the characteristic personality and facial changes. A number of these changes are quite subtle and none of them is present in all affected individuals. The cause of WS remains obscure and consequently, there are no cytogenetic, biochemical, or molecular studies to help in the diagnosis of patients in whom the diagnosis is uncertain. We have generated a mean WS metacarpophalangeal patten profile (MCPP) on 21 clinically diagnosed individuals with WS. This mean syndrome profile shows that WS hands are smaller than average age\u2010matched control hands and that the distal phalanx of the thumb is disproportionately large with respect to the rest of the hand. A mathematical model, which effectively discriminates WS patients from unaffected control individuals, was developed using discriminant analysis of the MCPP data. Of the 21 WS patients classified by this method, only 2 were misclassified as \u201cnormal.\u201d Similarly, 2 of the 24 control individuals were misclassified as \u201cWS\u201d, yielding an overall successful classification rate of 91%. \u00a9 1993 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320470407","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T16:34:21Z","timestamp":1118507661000},"page":"471-474","source":"Crossref","is-referenced-by-count":10,"title":["Metacarpophalangeal pattern profile analysis in Williams syndrome"],"prefix":"10.1002","volume":"47","author":[{"given":"Michele A.","family":"Burns","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D. Ross","family":"McLeod","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L. R.","family":"Linton","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Merlin G.","family":"Butler","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":"10.1016\/0002-9149(64)90154-7"},{"key":"e_1_2_1_3_1","first-page":"745","article-title":"Association between aortic stenosis and facies of severe infantile hypercalcemia","volume":"2","author":"Back JA","year":"1963","journal-title":"Lancet"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.23.5.389"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1982.tb01846.x"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320310406"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320220222"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1148\/105.2.375"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.63.7.809"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(75)80356-8"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(88)80272-5"},{"key":"e_1_2_1_12_1","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1542\/peds.80.1.85","article-title":"Williams syndrome: Features in late childhood and adolescence","volume":"80","author":"Pagon RA","year":"1987","journal-title":"Pediatrics"},{"key":"e_1_2_1_13_1","volume-title":"The Hand in Radiologic Diagnosis","author":"Poznanski AK","year":"1984"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1148\/104.1.1"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1984.tb02011.x"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.1990.tb16912.x"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-7610.1987.tb00212.x"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1161\/01.CIR.24.6.1311"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320470407","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320470407","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,25]],"date-time":"2023-10-25T12:20:48Z","timestamp":1698236448000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320470407"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1993,9,15]]},"references-count":17,"journal-issue":{"issue":"4","published-print":{"date-parts":[[1993,9,15]]}},"alternative-id":["10.1002\/ajmg.1320470407"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320470407","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1993,9,15]]}}}