Nadir görülen Axenfeld-Rieger sendromu: olgu bildirimi

INTRODUCTION: Axenfeld-Rieger syndrome (ARS) is a rare autosomal dominant disorder. It is characterized mainly by anterior segment abnormalities of the eye, and also comprises non-ocular defects including dental, craniofacial and systemic abnormalities. The purpose of this case report was to present clinic and radiographic findings and treatment approach in a patient with ARS. CASE REPORT: A 21-year-old woman referred to our clinic with complaints of chewing difficulties, esthetic and speech problems. The medical anamnesis revealed several ocular disorders including glaucoma, cataract and strabismus, and the patient had been using eye-glasses since she was six-months-old. The dental history revealed no tooth extraction. In the extraoral examination, hypertelorism, malar hypoplasia, broad nasal bridge, short philtrum and mandibular retrognathia were observed. Intraoral examination disclosed the presence of an anterior open-bite, an Angle Class II malocclusion and four primary and seventeen permanent teeth. Presence of root anomalies (dilaceration, taurodontism, short roots), caries and a partially-erupted mandibular third molar were observed in radiographic examination. Cephalometric measurements suggested the presence of a variety of craniofacial abnormalities and hypoplasia in the maxilla and the mandible. A multidisciplinary operative approach comprising surgical, endodontic, restorative and prosthetic means were implemented for the oral rehabilitation of the patient. CONCLUSION: The case reported here was a rare presentation of ARS with unique craniofacial features including mandibular hypoplasia and Angle Class II malocclusion. The oral rehabilitation of these patients necessitates a multidisciplinary clinical work.