{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,8]],"date-time":"2026-05-08T22:32:17Z","timestamp":1778279537813,"version":"3.51.4"},"reference-count":12,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2004,9,10]],"date-time":"2004-09-10T00:00:00Z","timestamp":1094774400000},"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":[[2004,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report two related Thai children having a new syndrome of microcephalic osteodysplastic primordial dwarfism (MOPD). The findings which classify them as having MOPD include IUGR, microcephaly, prominent nose and nasal bridge, small pinnae, short stature, cone\u2010shaped and ivory\u2010epiphyses, delayed bone age, slender long bones, and abnormal pelvis. The findings that distinguish them as having newly recognized syndrome consist of severe microdontia, malformed teeth, single\u2010rooted or rootless teeth, severely hypoplastic alveolar bone, caf\u00e9 au lait spots, acanthosis nigricans, and areas of hypo\u2010 and hyperpigmented skin. The reported patients appear to have the same condition as the family reported by Kantaputra [2002: Am J Med Genet 111:420\u2013428]. This article contains supplementary material, which may be viewed at the American Journal of Medical Genetics website at <jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" xlink:href=\"http:\/\/www.interscience.wiley.com\/jpages\/0148-7299\/suppmat\/index.html\">http:\/\/www.interscience.wiley.com\/jpages\/0148\u20107299\/suppmat\/index.html<\/jats:ext-link>. \u00a9 2004 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.30079","type":"journal-article","created":{"date-parts":[[2004,9,14]],"date-time":"2004-09-14T09:47:36Z","timestamp":1095155256000},"page":"181-190","source":"Crossref","is-referenced-by-count":23,"title":["Microcephalic osteodysplastic primordial dwarfism with severe microdontia and skin anomalies: Confirmation of a new syndrome"],"prefix":"10.1002","volume":"130A","author":[{"given":"Piranit N.","family":"Kantaputra","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pranoot","family":"Tanpaiboon","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kevalee","family":"Unachak","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Verayuth","family":"Praphanphoj","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2004,9,10]]},"reference":[{"key":"e_1_2_5_2_1","first-page":"555","article-title":"Seckel's dwarfism: Analysis of chromosome breakage and sister chromatid exchange","volume":"133","author":"Cervenka J","year":"1979","journal-title":"Am J Dis Child"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10589"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1597\/1545-1569(2001)038<0645:CMDASM>2.0.CO;2"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320580209"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320440217"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19981102)80:1<25::AID-AJMG5>3.0.CO;2-0"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320120104"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1129"},{"key":"e_1_2_5_10_1","volume-title":"Bird\u2010headed dwarfs: Studies in developmental anthropology including human populations","author":"Seckel HPG","year":"1960"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.17796\/jcpd.26.3.l02834m2827m0132"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320400205"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0301-0503(81)80038-0"}],"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.30079","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.30079","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,1]],"date-time":"2023-10-01T21:51:45Z","timestamp":1696197105000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.30079"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,9,10]]},"references-count":12,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2004,10]]}},"alternative-id":["10.1002\/ajmg.a.30079"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.30079","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2004,9,10]]}}}