{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,22]],"date-time":"2025-10-22T10:25:18Z","timestamp":1761128718345},"reference-count":13,"publisher":"Wiley","issue":"24","license":[{"start":{"date-parts":[[2008,11,14]],"date-time":"2008-11-14T00:00:00Z","timestamp":1226620800000},"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":[[2008,12,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We describe an apparently new genetic syndrome in six members of a family living in a remote area in Northeastern Brazil. This syndrome comprises: short stature due to a marked decrease in the length of the lower limbs (predominantly mesomelic with fibular agenesis\/marked hypoplasia), grossly malformed\/deformed clubfeet with severe oligodactyly, upper limbs with acromial dimples and variable motion limitation of the forearms and\/or hands, severe nail hypoplasia\/anonychia sometimes associated with mild brachydactyly and occasionally with pre\u2010axial polydactyly. This syndrome is apparently distinct from the syndrome of brachydactyly\u2010ectrodactyly with fibular aplasia or hypoplasia (OMIM 113310), the syndrome of fibular aplasia or hypoplasia, femoral bowing and poly\u2010, syn\u2010, and oligodactyly (OMIM 228930), and from other previously described conditions exhibiting fibular agenesis\/hypoplasia. \u00a9 2008 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.32580","type":"journal-article","created":{"date-parts":[[2008,11,14]],"date-time":"2008-11-14T22:51:29Z","timestamp":1226703089000},"page":"3126-3131","source":"Crossref","is-referenced-by-count":7,"title":["A previously undescribed syndrome combining fibular agenesis\/hypoplasia, oligodactylous clubfeet, anonychia\/ungual hypoplasia, and other defects"],"prefix":"10.1002","volume":"146A","author":[{"given":"Silvana C.","family":"Santos","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eliete","family":"Pardono","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Ione","family":"Ferreira da Costa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aurea Nogueira","family":"de Melo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zodja","family":"Graciani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alessandra Cavalcanti","family":"de Albuquerque e Souza","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karina","family":"Lezirovitz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Renata Soares","family":"Thiele\u2010Aguiar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Regina C\u00e9lia","family":"Mingroni\u2010Netto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John M.","family":"Opitz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fernando","family":"Kok","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paulo A.","family":"Otto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2008,11,14]]},"reference":[{"key":"e_1_2_5_2_1","first-page":"49","article-title":"Fuhrmann syndrome associated with cortical dysplasia","volume":"12","author":"Aynaci FM","year":"2001","journal-title":"Genet Couns"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31244"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10754"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00441580"},{"key":"e_1_2_5_6_1","first-page":"519","volume-title":"Skeletal dysplasias","author":"Fuhrmann W","year":"1982"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1990.tb03589.x"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-200304000-00002"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19970516)70:2<107::AID-AJMG1>3.0.CO;2-V"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320250626"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320410208"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320290422"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320240204"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1086\/506332"}],"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.32580","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.32580","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T09:33:15Z","timestamp":1697621595000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.32580"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,11,14]]},"references-count":13,"journal-issue":{"issue":"24","published-print":{"date-parts":[[2008,12,15]]}},"alternative-id":["10.1002\/ajmg.a.32580"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.32580","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,11,14]]}}}