Oculoauriculofrontonasal dysplasia syndrome with additional clinical features
Cleft Palate-Craniofacial Journal, cilt.54, sa.6, ss.749-753, 2017 (SCI-Expanded, Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 54 Sayı: 6
- Basım Tarihi: 2017
- Doi Numarası: 10.1597/15-078
- Dergi Adı: Cleft Palate-Craniofacial Journal
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
- Sayfa Sayıları: ss.749-753
- Anahtar Kelimeler: frontonasal dysplasia, oculoauriculofrontonasal syndrome, oculo-auriculo-vertebral spectrum, dysmorphology syndromes
- Sağlık Bilimleri Üniversitesi Adresli: Evet
Özet
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.