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Article

Oculoauriculofrontonasal syndrome: Refining the phenotype through a new case series and literature review.

American journal of medical genetics. Part A - 1 Oct 2023

Serigatto Henrique Regonaschi, Kokitsu-Nakata Nancy Mizue, Vendramini-Pittoli Siulan, Tonello Cristiano, Moura Priscila Padilha, Peixoto Adriano Porto, Gomes Luiz Paulo, Zechi-Ceide Roseli Maria

Abstract excerpt

The oculoauriculofrontonasal syndrome (OAFNS) is a rare condition, with unknown etiology, characterized by the association of frontonasal dysplasia (FND) and oculoauriculovertebral spectrum (OAVS). 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...

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PMID: 37282829
DOI: 10.1002/ajmg.a.63319

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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