{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,18]],"date-time":"2026-09-18T20:53:53Z","timestamp":1789764833553,"version":"4.0.1"},"reference-count":45,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2013,5,1]],"date-time":"2013-05-01T00:00:00Z","timestamp":1367366400000},"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":[[2013,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:label\/><jats:p>Frontonasal Dysplasia (FND) and Oculo\u2010auriculo\u2010vertebral spectrum (OAVS) are two well\u2010recognized clinical entities. With features of both FND and OAVS, the term oculoauriculofrontonasal syndrome (OAFNS) was coined in 1981. The OAFNS phenotype combines elements of abnormal morphogenesis of the frontonasal and maxillary process (derived from forebrain neural crest) with abnormal development of the first and second branchial arches (derived from hindbrain neural crest). We present a case series of 33 children with OAFNS ascertained from a comprehensive review of the literature and report an additional retrospective series of eight patients displaying features consistent with OAFNS. Notably, in a subset of our cases, we have observed abnormalities in nasal ossification and bony structures of the maxilla that have not previously described in OAFNS and are not seen in either FND or OAVS. We present the phenotype and novel naso\u2010maxillary findings and explore potential etiologic and developmental pathways for OAFNS. We highlight the differences in phenotypic characteristics of OAFNS compared to OAVS and FND. These observations support the classification of OAFNS as a discrete syndrome. Further phenotypic refinements of OAFNS are needed to understand pathogenesis of this syndrome and the newly described nasal malformation may help identify the etiology. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.35926","type":"journal-article","created":{"date-parts":[[2013,5,2]],"date-time":"2013-05-02T05:21:30Z","timestamp":1367472090000},"page":"1345-1353","source":"Crossref","is-referenced-by-count":19,"title":["Oculoauriculofrontonasal syndrome: Case series revealing new bony nasal anomalies in an old syndrome"],"prefix":"10.1002","volume":"161","author":[{"given":"Kelly N.","family":"Evans","sequence":"first","affiliation":[{"name":"Department of Pediatrics University of Washington Seattle, Washington"},{"name":"Seattle Children's Craniofacial Center Seattle, Washington"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joseph S.","family":"Gruss","sequence":"additional","affiliation":[{"name":"Seattle Children's Craniofacial Center Seattle, Washington"},{"name":"Department of Plastic Surgery University of Washington Seattle, Washington"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paritosh C.","family":"Khanna","sequence":"additional","affiliation":[{"name":"Department of Radiology University of California San Diego San Diego, California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael L.","family":"Cunningham","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Washington Seattle, Washington"},{"name":"Seattle Children's Craniofacial Center Seattle, Washington"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Timothy C.","family":"Cox","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Washington Seattle, Washington"},{"name":"Seattle Children's Craniofacial Center Seattle, Washington"},{"name":"Department of Anatomy and Developmental Biology Monash University Melbourne Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne V.","family":"Hing","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Washington Seattle, Washington"},{"name":"Seattle Children's Craniofacial Center Seattle, Washington"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,5]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jcms.2011.11.003"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.08.010"},{"key":"e_1_2_8_4_1","first-page":"285","article-title":"Intracranial lipomas, hydrocephalus and other CNS anomalies in oculoauriculo\u2010vertebral dysplasia (goldenhar\u2013gorlin syndrome)","volume":"11","author":"Aleksic S","year":"1984","journal-title":"Childs Brain"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19960517)63:2<346::AID-AJMG4>3.0.CO;2-R"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/dds507"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddq030"},{"key":"e_1_2_8_8_1","unstructured":"CareyYSL.1981.Frontonasal dysplasia and the goldenhar syndrome: The oculo\u2010auriculo\u2010frontonasal syndrome. 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