A rare clinical presentation of Axenfeld-Rieger syndrome: case report

Year 2014, , 143 - 148, 08.09.2014

İlkay Peker , Arzu Zeynep Yıldırım Biçer , Erdal Bozkaya Meryem Toraman Alkurt Elif Sadık Güven Kayaoğlu

https://doi.org/10.17214/aot.12475

Abstract

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.

Keywords

Malocclusion, Mandibular Hypoplasia, Maxillary Hypoplasia

Nadir görülen Axenfeld-Rieger sendromu: olgu bildirimi

Abstract

TANITIM: Axenfeld-Rieger sendromu (ARS), otozomal dominant geçişli, nadir görülen bir hastalıktır. Esas olarak gözün ön bölgesini etkileyen anomalilerle karakterizedir, aynı zamanda dental, sistemik ve kafa-yüz anomalilerini kapsayan göz dışında defektler de izlenmektedir. Bu olgu bildiriminin amacı, ARS’li bir hastadaki klinik, radyografik bulguları ve aynı zamanda tedavi yaklaşımlarını sunmaktır.OLGU BİLDİRİMİ: Yirmibir yaşında kadın hasta estetik problemler, yemek yeme ve konuşma sırasında meydana gelen güçlük şikayetleriyle kliniğimize başvurdu. Medikal anamnezinde hastanın glokom, katarakt ve strabismus gibi bazı göz hastalıkları olduğu ve altı aylıktan itibaren gözlük kullandığı öğrenildi. Dental anamnezinde hiç diş çekimi yaptırmadığı anlaşıldı. Ekstraoral muayenede hipertelorizm, malar hipoplazi, geniş burun köprüsü, kısa filtrum ve mandibular retrognati izlendi. İntraoral muayenede ise ön açık kapanış, Angle Sınıf II maloklüzyon, dört adet süt dişi ve onyedi adet daimi diş mevcuttu. Radyografik incelemede bazı kök anomalileri (dilaserasyon, taurodontizm, kısa kökler) çürük ve yarı sürmüş mandibuler üçüncü molar diş izlendi. Sefalometrik ölçümler hastada çeşitli kafa-yüz anomalileri ile maksilla ve mandibulada hipoplazisi olduğunu gösterdi. Hastaya cerrahi, endodontik, restoratif ve protetik tedaviyi kapsayan multidisipliner tedavi uygulandı.SONUÇ: Burada bildirilen hasta, mandibula hipoplazisi ve iskeletsel Angle Sınıf II maloklüzyonu içeren farklı yüz özellikleri nedeniyle nadir görülen bir ARS olgusudur. Bu hastaların ağız rehabilitasyonu multidisipliner bir klinik yaklaşım gerektirmektedir.

Keywords

Dişlerin kusurlu kapanması, maksiller hipoplazi, mandibular hipoplazi

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