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Main clinical findings include widely spaced eyes, epibulbar dermoid, broad nose, mandibular hypoplasia, and preauricular tags. Here, we describe a case series of 32 Brazilian individuals with OAFNS and review the literature ascertaining individuals presenting phenotypes compatible with the diagnosis of OAFNS, aiming to refine the phenotype. This series emphasizes the phenotypic variability of the OAFNS and highlights the occurrence of rare craniofacial clefts as a part of the phenotype. The ectopic nasal bone, a hallmark of OAFNS, was frequent in our series, reinforcing the clinical diagnosis. The absence of recurrence, consanguinity, chromosomal, and genetic abnormalities reinforces the hypothesis of a nontraditional inheritance model. The phenotypic refinement provided by this series contributes to an investigation regarding the etiology of OAFNS.<\/jats:p>","DOI":"10.1002\/ajmg.a.63319","type":"journal-article","created":{"date-parts":[[2023,6,7]],"date-time":"2023-06-07T23:41:45Z","timestamp":1686181305000},"page":"2493-2507","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Oculoauriculofrontonasal syndrome: Refining the phenotype through a new case series and literature review"],"prefix":"10.1002","volume":"191","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4355-6677","authenticated-orcid":false,"given":"Henrique Regonaschi","family":"Serigatto","sequence":"first","affiliation":[{"name":"Department of Clinical Genetics Hospital of Rehabilitation of Craniofacial Anomalies, University of S\u00e3o Paulo  Bauru S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nancy Mizue","family":"Kokitsu\u2010Nakata","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Hospital of Rehabilitation of Craniofacial Anomalies, University of S\u00e3o Paulo  Bauru S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Siulan","family":"Vendramini\u2010Pittoli","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Hospital of Rehabilitation of Craniofacial Anomalies, University of S\u00e3o Paulo  Bauru S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cristiano","family":"Tonello","sequence":"additional","affiliation":[{"name":"Department of Craniofacial Surgery Hospital of Rehabilitation of Craniofacial Anomalies, University of S\u00e3o Paulo  Bauru S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Priscila Padilha","family":"Moura","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Hospital of Rehabilitation of Craniofacial Anomalies, University of S\u00e3o Paulo  Bauru S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adriano Porto","family":"Peixoto","sequence":"additional","affiliation":[{"name":"Department of Orthodontics Hospital of Rehabilitation of Craniofacial Anomalies, University of S\u00e3o Paulo  Bauru S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luiz Paulo","family":"Gomes","sequence":"additional","affiliation":[{"name":"Department of Craniofacial Surgery Hospital of Rehabilitation of Craniofacial Anomalies, University of S\u00e3o Paulo  Bauru S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4526-3336","authenticated-orcid":false,"given":"Roseli Maria","family":"Zechi\u2010Ceide","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Hospital of Rehabilitation of Craniofacial Anomalies, University of S\u00e3o Paulo  Bauru S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,6,7]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/bcr-02-2012-5940"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jcms.2011.11.003"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1097\/PRS.0b013e318200aa08"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32601"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/(sici)1096-8628(19960517)63:2<346::aid-ajmg4>3.3.co;2-p"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2013.287"},{"key":"e_1_2_10_8_1","volume-title":"Pediatric radiology (vol. 14, no. 4, p. 258)","author":"Bartolozzi M.","year":"1984"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1597\/14-108"},{"key":"e_1_2_10_10_1","volume-title":"1981 conference on malformations and morphogenesis (March of Dimes)","author":"Carey J. 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