Oculoauriculofrontonasal Dysplasia Syndrome with Additional Clinical Features. (November 2017)

• Record Type: Journal Article
• Authors: Tunc, Turan; Polat, Adem; Altan, Bilal; Yapici, Abdul Kerim; Saldir, Mehmet; Sari, Sabahattin; Sari, Erkan; Bayram, Yalcin; Eski, Muhitdin
• Is Part Of: Cleft palate-craniofacial journal. Volume 54:Number 6(2017)
• Page Start: 749
• Page End: 753
• Publication Date: 2017-11
• Subjects: frontonasal dysplasia -- oculoauriculofrontonasal syndrome -- oculo-auriculo-vertebral spectrum -- dysmorphology syndromes; Cleft palate -- Periodicals; Skull -- Abnormalities -- Periodicals; Cranial manipulation -- Periodicals; Skull -- Abnormalities -- Surgery -- Periodicals; Face -- Abnormalities -- Surgery -- Periodicals; Fente palatine -- Périodiques; Crâne -- Malformations -- Périodiques; Manipulation crânienne -- Périodiques; Crâne -- Malformations -- Chirurgie -- Périodiques; Face -- Malformations -- Chirurgie -- Périodiques; Cleft palate; Cranial manipulation; Face -- Abnormalities -- Surgery; Skull -- Abnormalities; Skull -- Abnormalities -- Surgery; Cleft Lip; Cleft Palate; Facial Bones -- abnormalities; Skull -- abnormalities; Periodicals; Periodicals; Periodicals; 617.522
• DOI: 10.1597/15-078
• Languages: English
• ISSNs: 1055-6656

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.