Oculoauriculofrontonasal Dysplasia Syndrome with Additional Clinical Features

Author:

Tunc Turan1,Polat Adem1,Altan Bilal2,Yapici Abdul Kerim3,Saldir Mehmet4,Sari Sabahattin5,Sari Erkan6,Bayram Yalcin3,Eski Muhitdin3

Affiliation:

1. Department of Pediatrics, Division of Neonatology, Gulhane Military School of Medicine, Ankara, Turkey.

2. Department of Pediatric Surgery, Gulhane Military School of Medicine, Ankara, Turkey

3. Department of Plastic and Reconstructive Surgery, Gulhane Military School of Medicine, Ankara, Turkey

4. Department of Pediatrics, Gulhane Military School of Medicine, Ankara, Turkey

5. Department of Radiology, Gulhane Military School of Medicine, Ankara, Turkey

6. Department of Pediatric Endocrinology, Gulhane Military School of Medicine, Ankara, Turkey

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.

Publisher

SAGE Publications

Subject

Otorhinolaryngology,Oral Surgery

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