OROFACIAL FEATURES IN GOLDENHAR SYNDROME

• Published in: Oral surgery, oral medicine, oral pathology and oral radiology Vol. 134; no. 3; p. e114
• Main Authors: Santos, Catielma Nascimento, Araújo, Nathália Abdala, De Rezende, Nathalie Pepe Medeiros, Martins, Fabiana, Ortega, Karem López, Gallottini, Marina Helena Cury
• Format: Journal Article
• Language: English
• Published: Elsevier Inc 01-09-2022
• ISSN: 2212-4403; 2212-4411
• DOI: 10.1016/j.oooo.2022.01.185

Goldenhar syndrome (GS) or hemifacial microsomia (OMIM #164210) is a rare genetic disorder related to gene 14q32, which involves defects in the 1st and 2nd branchial arches reflecting in craniofacial, cardiac, vertebral, and central nervous system alterations. The objective of this work was to demonstrate orofacial characteristics in Goldenhar syndrome. A 7-year-old male patient with GS was referred for dental treatment. Medical history revealed bronchitis and asthma, recurrent pneumonia, and epilepsy, along with motor and sensory impairment and surgeries for ear concha reconstruction and testicle repositioning. On physical evaluation, facial asymmetry, auricular, ocular, and maxillomandibular alterations were observed. Intraoral examination revealed mixed dentition with delayed eruption, caries lesions, poor oral hygiene, and occlusal alteration. Panoramic x-ray was requested. Dental management consisted in caries removal and oral hygiene instructions. Dentists should be aware of oral features of GS for proper dental management.