{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T04:26:33Z","timestamp":1777523193834,"version":"3.51.4"},"reference-count":33,"publisher":"SAGE Publications","issue":"4","license":[{"start":{"date-parts":[[2006,7,1]],"date-time":"2006-07-01T00:00:00Z","timestamp":1151712000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["The Cleft Palate Craniofacial Journal"],"published-print":{"date-parts":[[2006,7]]},"abstract":"<jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>First and second branchial arch involvement during early embryonic development results in a wide spectrum of anomalies that encompass diverse, superimposed, and heterogeneous phenotypes within the so-called oculoauriculovertebral spectrum. Nine members of a Brazilian family presenting typical branchial arch involvement in association with external opthalmoplegia are reported.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>Macrostomia or abnormal mouth contour, preauricular tags, and uni- or bilateral ptosis were present in association in several patients. To our knowledge, this is the first report on this type of autosomal dominant condition. Clinical and genetic aspects are discussed.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1597\/05-060.1","type":"journal-article","created":{"date-parts":[[2006,9,7]],"date-time":"2006-09-07T13:29:40Z","timestamp":1157635780000},"page":"429-434","source":"Crossref","is-referenced-by-count":5,"title":["Macrostomia, Preauricular Tags, and External Ophthalmoplegia: A New Autosomal Dominant Syndrome within the Oculoauriculovertebral Spectrum?"],"prefix":"10.1177","volume":"43","author":[{"given":"Antonio","family":"Richieri-Costa","sequence":"first","affiliation":[{"name":"Speech-Hearing Genetics Department, Hospital de Reabilita\u00e7\u00e3o de Anomalias Craniofaciais, Universidade de S\u00e3o Paulo, Bauru, S\u00e3o Paulo, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lucilene Arilho","family":"Ribeiro","sequence":"additional","affiliation":[{"name":"Speech-Hearing Genetics Department, Hospital de Reabilita\u00e7\u00e3o de Anomalias Craniofaciais, Universidade de S\u00e3o Paulo, Bauru, S\u00e3o Paulo, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2006,7,1]]},"reference":[{"key":"bibr1-05-060.1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.26.7.638"},{"key":"bibr2-05-060.1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30638"},{"key":"bibr3-05-060.1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20167"},{"key":"bibr4-05-060.1","doi-asserted-by":"publisher","DOI":"10.3349\/ymj.2004.45.1.157"},{"key":"bibr5-05-060.1","doi-asserted-by":"publisher","DOI":"10.1001\/archotol.125.2.209"},{"key":"bibr6-05-060.1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.10832"},{"key":"bibr7-05-060.1","first-page":"321","volume":"10","author":"Garavelli L.","year":"1999","journal-title":"Genet Couns."},{"key":"bibr8-05-060.1","doi-asserted-by":"crossref","DOI":"10.1093\/oso\/9780195118612.001.0001","volume-title":"Syndrome of the Head and Neck.","author":"Gorlin R.J.","year":"2001","edition":"4"},{"key":"bibr9-05-060.1","volume-title":"Oxford Monographs on Medical Genetics No. 19.","author":"Gorlin R.J.","year":"1990","edition":"3"},{"key":"bibr10-05-060.1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-199901000-00001"},{"key":"bibr11-05-060.1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320530105"},{"key":"bibr12-05-060.1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20643"},{"key":"bibr13-05-060.1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-001-0626-x"},{"key":"bibr14-05-060.1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1755-3768.1970.tb03749.x"},{"key":"bibr15-05-060.1","doi-asserted-by":"publisher","DOI":"10.1097\/00001665-200011060-00007"},{"key":"bibr16-05-060.1","volume-title":"Human Embryology.","author":"Larsen W.J.","year":"1993"},{"key":"bibr17-05-060.1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-200401000-00005"},{"key":"bibr18-05-060.1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320120403"},{"key":"bibr19-05-060.1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320250617"},{"key":"bibr20-05-060.1","doi-asserted-by":"publisher","DOI":"10.1055\/s-2004-820894"},{"key":"bibr21-05-060.1","doi-asserted-by":"publisher","DOI":"10.1016\/0030-4220(73)90070-4"},{"key":"bibr22-05-060.1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320250616"},{"key":"bibr23-05-060.1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320150207"},{"key":"bibr24-05-060.1","doi-asserted-by":"publisher","DOI":"10.1159\/000309317"},{"key":"bibr25-05-060.1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1834-7819.1994.tb05564.x"},{"key":"bibr26-05-060.1","first-page":"150","volume":"20","author":"Stanojevic M.","year":"2000","journal-title":"J Craniofac Genet Dev Biol."},{"key":"bibr27-05-060.1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980724)78:4<345::AID-AJMG8>3.0.CO;2-K"},{"key":"bibr28-05-060.1","doi-asserted-by":"publisher","DOI":"10.1080\/13816810490902828"},{"key":"bibr29-05-060.1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320440530"},{"key":"bibr30-05-060.1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-199607000-00001"},{"key":"bibr31-05-060.1","first-page":"61","volume":"40","author":"Verma M.J.","year":"1992","journal-title":"Indian J Ophthalmol."},{"key":"bibr32-05-060.1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1261"},{"key":"bibr33-05-060.1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19970414)69:4<418::AID-AJMG16>3.0.CO;2-Q"}],"container-title":["The Cleft Palate Craniofacial Journal"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1597\/05-060.1","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1597\/05-060.1","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T16:20:04Z","timestamp":1777393204000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1597\/05-060.1"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,7]]},"references-count":33,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2006,7]]}},"alternative-id":["10.1597\/05-060.1"],"URL":"https:\/\/doi.org\/10.1597\/05-060.1","relation":{},"ISSN":["1055-6656","1545-1569"],"issn-type":[{"value":"1055-6656","type":"print"},{"value":"1545-1569","type":"electronic"}],"subject":[],"published":{"date-parts":[[2006,7]]}}}