Dental care for a pediatric patient with Axenfeld- Rieger syndrome: Initial management and future considerations

Abstract

Axenfeld-Rieger syndrome(ARS) is a rare genetic disorder characterized by ocular, dental, and craniofacial abnormalities. This case report presents the dental management of a 5-year-old boy with ARS, emphasizing early diagnosis and multidisciplinary care. The patient, diagnosed with a PITX2 gene mutation, exhibited extensive tooth agenesis, anterior crossbite, and maxillomandibular discrepancy. Radiographic analysis revealed sella turcica bridging, maxillary hypoplasia, and mandibular prognathism. Initial treatment included caries management and orthodontic intervention. Long-term strategies were outlined, including prosthetic considerations and potential orthognathic surgery. This case highlights the complexity of ARS management and the lack of standardized clinical guidelines due to its rarity. The report underscores the crucial role of dentists in the early detection and comprehensive care of ARS, contributing to the limited literature on dental management of this disorder.