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Case Reports
. 2017 Nov;54(6):749-753.
doi: 10.1597/15-078. Epub 2016 Oct 10.

Oculoauriculofrontonasal Dysplasia Syndrome With Additional Clinical Features

Turan Tunc, Adem Polat, Bilal Altan, Abdul Kerim Yapici, Mehmet Saldir, Sabahattin Sari, Erkan Sari, Yalcin Bayram, Muhitdin Eski
Case Reports

Oculoauriculofrontonasal Dysplasia Syndrome With Additional Clinical Features

Turan Tunc et al. Cleft Palate Craniofac J. 2017 Nov.

Abstract

Oculo-auriculo-vertebral spectrum and frontonasal dysplasia are two well-known examples of dysmorphology syndromes. Oculoauriculofrontonasal syndrome (OAFNS) is a clinical entity involving the characteristics of both OAVS and FND and is thought to be a result of the abnormal development of structures in the first and the second branchial arches, including the abnormal morphogenesis of maxillary processes. Herein we report a case of OAFNS with cliteral hypertrophy, premaxillary teeth, and inguinal hernia, features not previously reported in the literature.

Keywords: dysmorphology syndromes; frontonasal dysplasia; oculo-auriculo-vertebral spectrum; oculoauriculofrontonasal syndrome.

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