{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T14:30:57Z","timestamp":1786977057090,"version":"build-2736575974"},"reference-count":27,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2006,9,5]],"date-time":"2006-09-05T00:00:00Z","timestamp":1157414400000},"content-version":"vor","delay-in-days":35,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Birth Defects Research"],"published-print":{"date-parts":[[2006,8]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>BACKGROUND:<\/jats:title>\n                    <jats:p>Pfeiffer syndrome (PS; OMIM #101600) is an autosomal dominant disorder characterized by craniosynostosis, midface hypoplasia, broad thumbs, brachydactyly, broad great toes, and variable syndactyly.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>CASE:<\/jats:title>\n                    <jats:p>We report a case of PS (type 3) with tracheal and visceral involvement and sacrococcygeal eversion. The patient shows facial dysmorphism with macrocephaly, dolichocephaly, and trigonocephaly, and an asymmetric skull, bilateral and severe exophthalmia with shallow orbits and ocular hypertelorism, downslanting palpebral fissures, constant strabismus, short anterior cranial base, and midface hypoplasia.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>CONCLUSIONS:<\/jats:title>\n                    <jats:p>\n                      Molecular analysis of the\n                      <jats:italic>FGFR2<\/jats:italic>\n                      gene in this patient revealed a point mutation (c.890G&gt;C NM_000141). This mutation leads to the substitution of the residue tryptophan at position 290 to cysteine in the protein (p.Try290Cys). These data reinforce the hypothesis that the p.Trp290Cys mutation is more often associated with a severe and poor prognosis of PS. Furthermore they suggest that the presence of sacrococcygeal defects is not associated with any specific\n                      <jats:italic>FGFR2<\/jats:italic>\n                      mutation. Birth Defects Research (Part A), 2006. \u00a9 2006 Wiley\u2010Liss, Inc.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/bdra.20287","type":"journal-article","created":{"date-parts":[[2006,9,5]],"date-time":"2006-09-05T20:21:29Z","timestamp":1157487689000},"page":"629-633","source":"Crossref","is-referenced-by-count":15,"title":["Further evidence of association between mutations in\n                    <i>FGFR2<\/i>\n                    and syndromic craniosynostosis with sacrococcygeal eversion"],"prefix":"10.1002","volume":"76","author":[{"given":"N\u00e9lio A.J.","family":"Oliveira","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lu\u00eds G.","family":"Alonso","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roberto D.","family":"Fanganiello","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Rita","family":"Passos\u2010Bueno","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2006,9,5]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1442-200x.2001.01379.x"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320450305"},{"key":"e_1_2_5_4_1","first-page":"309","volume-title":"Craniosynostosis: diagnosis, evaluation, and management","author":"Cohen MM","year":"2000"},{"key":"e_1_2_5_5_1","first-page":"361","volume-title":"Inborn errors of development\u2010the molecular basis of clinical disorders of morphogenesis","author":"Cohen MM","year":"2004"},{"key":"e_1_2_5_6_1","doi-asserted-by":"crossref","first-page":"483","DOI":"10.1242\/dev.127.3.483","article-title":"An important role for the IIIb isoform of fibroblast growth factor receptor 2 (FGFR2) in mesenchymal\u2010epithelial signaling during mouse organogenesis","volume":"127","author":"De Moerlooze L","year":"2000","journal-title":"Development"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2005.00477.x"},{"key":"e_1_2_5_8_1","first-page":"654","volume-title":"Syndromes with craniosynostosis","author":"Gorlin RJ","year":"2001"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1086\/338758"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1159\/000056833"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201558"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/bdra.20093"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/16.3.1215"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.844"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.271.25.15292"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(1999)14:2<115::AID-HUMU3>3.0.CO;2-2"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/35039551"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1534-5807(02)00202-2"},{"key":"e_1_2_5_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980123)75:3<252::AID-AJMG4>3.0.CO;2-S"},{"key":"e_1_2_5_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0165-5876(02)00132-5"},{"key":"e_1_2_5_21_1","doi-asserted-by":"publisher","DOI":"10.1053\/jpsu.2003.50082"},{"key":"e_1_2_5_22_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.97.1.49"},{"key":"e_1_2_5_23_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004390050668"},{"key":"e_1_2_5_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(00)81803-6"},{"key":"e_1_2_5_25_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004390050413"},{"key":"e_1_2_5_26_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10125"},{"key":"e_1_2_5_27_1","first-page":"620","article-title":"Skull base and calvarial deformities: Association with intracranial changes in craniofacial syndromes","volume":"17","author":"Tokumaru AY","year":"1996","journal-title":"AJNR Am J Neuroradiol"},{"key":"e_1_2_5_28_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cytogfr.2005.03.001"}],"container-title":["Birth Defects Research Part A: Clinical and Molecular Teratology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fbdra.20287","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/bdra.20287","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,12]],"date-time":"2023-10-12T13:31:03Z","timestamp":1697117463000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/bdra.20287"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,8]]},"references-count":27,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2006,8]]}},"alternative-id":["10.1002\/bdra.20287"],"URL":"https:\/\/doi.org\/10.1002\/bdra.20287","archive":["Portico"],"relation":{},"ISSN":["1542-0752","1542-0760"],"issn-type":[{"value":"1542-0752","type":"print"},{"value":"1542-0760","type":"electronic"}],"subject":[],"published":{"date-parts":[[2006,8]]}}}