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

Yıl 2014, Cilt: 31 Sayı: 3, 143 - 148, 08.09.2014
https://doi.org/10.17214/aot.12475

Öz

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.

Kaynakça

  • Shields MB. Axenfeld-Rieger syndrome: a theory of mechanism and distinctions from the iridocorneal endothelial syndrome. Trans Am Ophthalmol Soc 1983;81:736-84.
  • Alward WL. Axenfeld-Rieger syndrome in the age of molecular genetics. Am J Ophthalmol 2000;130:107-15.
  • Shields MB, Buckley E, Klintworth GK, Thresher R. Axenfeld-Rieger syndrome. A spectrum of developmental disorders. Surv Ophthalmol 1985;29:387-409.
  • Jorgenson RJ, Levin LS, Cross HE, Yoder F, Kelly TE. The Rieger syndrome. Am J Med Genet 1978;2:307-18.
  • Lapeer GL. Rieger's syndrome. Severe dental anomalies with mild ophthalmic changes--a case report. J Can Dent Assoc 1986;52:935-7.
  • Waldron JM, McNamara C, Hewson AR, McNamara CM. AxenfeldRieger syndrome (ARS): A review and case report. Spec Care Dentist 2010;30:218-22.
  • O'Dwyer EM, Jones DC. Dental anomalies in Axenfeld-Rieger syndrome. Int J Paediatr Dent 2005;15:459-63.
  • Dimitrakopoulos J, Voyatzis N, Katopodi T. Rieger syndrome: a case report. J Oral Maxillofac Surg 1997;55:517-21.
  • Cunningham ET Jr, Eliott D, Miller NR, Maumenee IH, Green WR. Familial Axenfeld-Rieger anomaly, atrial septal defect, and sensorineural hearing loss: a possible new genetic syndrome. Arch Ophthalmol 1998;116:78-82.
  • Amendt BA, Semina EV, Alward WL. Rieger syndrome: a clinical, molecular, and biochemical analysis. Cell Mol Life Sci 2000;57:1652-66.
  • Holmström GE, Reardon WP, Baraitser M, Elston JS, Taylor DS. Heterogeneity in dominant anterior segment malformations. Br J Ophthalmol 1991;75:591-7.
  • Tümer Z, Bach-Holm D. Axenfeld-Rieger syndrome and spectrum of PITX2 and FOXC1 mutations. Eur J Hum Genet 2009;17:1527-39.
  • Semina EV, Reiter R, Leysens NJ, Alward WL, Small KW, Datson NA, et al. Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome. Nat Genet 1996;14:392-9.
  • Mears AJ, Jordan T, Mirzayans F, Dubois S, Kume T, Parlee M, et al. Mutations of the forkhead/winged-helix gene, FKHL7, in patients with Axenfeld-Rieger anomaly. Am J Hum Genet 1998;63:1316-28.
  • Nishimura DY, Swiderski RE, Alward WL, Searby CC, Patil SR, Bennet SR, et al. The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25. Nat Genet 1998;19:140-7.
  • Kamińska A, Sokołowska-Oracz A, Pawluczyk-Dyjecińska M, Szaflik JP. [Variability of clinical manifestations in the family with Axenfeld Rieger syndrome]. Klin Oczna 2007;109:321-6.
  • Li D, Zhu Q, Lin H, Zhou N, Qi Y. A novel PITX2 mutation in a Chinese family with Axenfeld-Rieger syndrome. Mol Vis 2008;14:2205-10.
  • Skogedal N, Nordgarden H. Case reports: Rieger syndrome. Eur Arch Paediatr Dent 2007;1:39-41.
  • Gould DB, John SW. Anterior segment dysgenesis and the developmental glaucomas are complex traits. Hum Mol Genet 2002;11:1185-93.
  • Fitch N, Kaback M. The Axenfeld syndrome and the Rieger syndrome. J Med Genet 1978;15:30-4.
  • Jones K. Smith’s recognizable patterns of human malformation, 6th ed. Philadelphia: Elsevier; 2006.
  • Villa A, Albonico A, Villa F. Hypodontia and microdontia: clinical features of a rare syndrome. J Can Dent Assoc 2011;77:b115.
  • Meyer-Marcotty P, Weisschuh N, Dressler P, Hartmann J, Stellzig Eisenhauer A. Morphology of the sella turcica in Axenfeld-Rieger syndrome with PITX2 mutation. J Oral Pathol Med 2008;37:504-10.
  • Dressler S, Meyer-Marcotty P, Weisschuh N, Jablonski-Momeni A, Pieper K, Gramer G, et al. Dental and Craniofacial Anomalies Associated with Axenfeld-Rieger Syndrome with PITX2 Mutation. Case Rep Med 2010;2010:621984.
  • Spallone A. Retinal detachment in Axenfeld-Rieger syndrome. Br J Ophthalmol 1989;73:559-62.
  • Chisholm IA, Chudley AE. Autosomal dominant iridogoniodysgenesis with associated somatic anomalies: four-generation family with Rieger's syndrome. Br J Ophthalmol 1983;67:529-34.
  • Prabhu NT, John R, Munshi AK. Rieger's syndrome: a case report. Quintessence Int 1997;28:749-52.

Nadir görülen Axenfeld-Rieger sendromu: olgu bildirimi

Yıl 2014, Cilt: 31 Sayı: 3, 143 - 148, 08.09.2014
https://doi.org/10.17214/aot.12475

Öz

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.

Kaynakça

  • Shields MB. Axenfeld-Rieger syndrome: a theory of mechanism and distinctions from the iridocorneal endothelial syndrome. Trans Am Ophthalmol Soc 1983;81:736-84.
  • Alward WL. Axenfeld-Rieger syndrome in the age of molecular genetics. Am J Ophthalmol 2000;130:107-15.
  • Shields MB, Buckley E, Klintworth GK, Thresher R. Axenfeld-Rieger syndrome. A spectrum of developmental disorders. Surv Ophthalmol 1985;29:387-409.
  • Jorgenson RJ, Levin LS, Cross HE, Yoder F, Kelly TE. The Rieger syndrome. Am J Med Genet 1978;2:307-18.
  • Lapeer GL. Rieger's syndrome. Severe dental anomalies with mild ophthalmic changes--a case report. J Can Dent Assoc 1986;52:935-7.
  • Waldron JM, McNamara C, Hewson AR, McNamara CM. AxenfeldRieger syndrome (ARS): A review and case report. Spec Care Dentist 2010;30:218-22.
  • O'Dwyer EM, Jones DC. Dental anomalies in Axenfeld-Rieger syndrome. Int J Paediatr Dent 2005;15:459-63.
  • Dimitrakopoulos J, Voyatzis N, Katopodi T. Rieger syndrome: a case report. J Oral Maxillofac Surg 1997;55:517-21.
  • Cunningham ET Jr, Eliott D, Miller NR, Maumenee IH, Green WR. Familial Axenfeld-Rieger anomaly, atrial septal defect, and sensorineural hearing loss: a possible new genetic syndrome. Arch Ophthalmol 1998;116:78-82.
  • Amendt BA, Semina EV, Alward WL. Rieger syndrome: a clinical, molecular, and biochemical analysis. Cell Mol Life Sci 2000;57:1652-66.
  • Holmström GE, Reardon WP, Baraitser M, Elston JS, Taylor DS. Heterogeneity in dominant anterior segment malformations. Br J Ophthalmol 1991;75:591-7.
  • Tümer Z, Bach-Holm D. Axenfeld-Rieger syndrome and spectrum of PITX2 and FOXC1 mutations. Eur J Hum Genet 2009;17:1527-39.
  • Semina EV, Reiter R, Leysens NJ, Alward WL, Small KW, Datson NA, et al. Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome. Nat Genet 1996;14:392-9.
  • Mears AJ, Jordan T, Mirzayans F, Dubois S, Kume T, Parlee M, et al. Mutations of the forkhead/winged-helix gene, FKHL7, in patients with Axenfeld-Rieger anomaly. Am J Hum Genet 1998;63:1316-28.
  • Nishimura DY, Swiderski RE, Alward WL, Searby CC, Patil SR, Bennet SR, et al. The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25. Nat Genet 1998;19:140-7.
  • Kamińska A, Sokołowska-Oracz A, Pawluczyk-Dyjecińska M, Szaflik JP. [Variability of clinical manifestations in the family with Axenfeld Rieger syndrome]. Klin Oczna 2007;109:321-6.
  • Li D, Zhu Q, Lin H, Zhou N, Qi Y. A novel PITX2 mutation in a Chinese family with Axenfeld-Rieger syndrome. Mol Vis 2008;14:2205-10.
  • Skogedal N, Nordgarden H. Case reports: Rieger syndrome. Eur Arch Paediatr Dent 2007;1:39-41.
  • Gould DB, John SW. Anterior segment dysgenesis and the developmental glaucomas are complex traits. Hum Mol Genet 2002;11:1185-93.
  • Fitch N, Kaback M. The Axenfeld syndrome and the Rieger syndrome. J Med Genet 1978;15:30-4.
  • Jones K. Smith’s recognizable patterns of human malformation, 6th ed. Philadelphia: Elsevier; 2006.
  • Villa A, Albonico A, Villa F. Hypodontia and microdontia: clinical features of a rare syndrome. J Can Dent Assoc 2011;77:b115.
  • Meyer-Marcotty P, Weisschuh N, Dressler P, Hartmann J, Stellzig Eisenhauer A. Morphology of the sella turcica in Axenfeld-Rieger syndrome with PITX2 mutation. J Oral Pathol Med 2008;37:504-10.
  • Dressler S, Meyer-Marcotty P, Weisschuh N, Jablonski-Momeni A, Pieper K, Gramer G, et al. Dental and Craniofacial Anomalies Associated with Axenfeld-Rieger Syndrome with PITX2 Mutation. Case Rep Med 2010;2010:621984.
  • Spallone A. Retinal detachment in Axenfeld-Rieger syndrome. Br J Ophthalmol 1989;73:559-62.
  • Chisholm IA, Chudley AE. Autosomal dominant iridogoniodysgenesis with associated somatic anomalies: four-generation family with Rieger's syndrome. Br J Ophthalmol 1983;67:529-34.
  • Prabhu NT, John R, Munshi AK. Rieger's syndrome: a case report. Quintessence Int 1997;28:749-52.
Toplam 27 adet kaynakça vardır.

Ayrıntılar

Birincil Dil İngilizce
Konular Sağlık Kurumları Yönetimi
Bölüm Olgu Bildirimi
Yazarlar

İlkay Peker

Arzu Zeynep Yıldırım Biçer

Erdal Bozkaya Bu kişi benim

Meryem Toraman Alkurt Bu kişi benim

Elif Sadık Bu kişi benim

Güven Kayaoğlu

Yayımlanma Tarihi 8 Eylül 2014
Yayımlandığı Sayı Yıl 2014 Cilt: 31 Sayı: 3

Kaynak Göster

APA Peker, İ., Yıldırım Biçer, A. Z., Bozkaya, E., Alkurt, M. T., vd. (2014). A rare clinical presentation of Axenfeld-Rieger syndrome: case report. Acta Odontologica Turcica, 31(3), 143-148. https://doi.org/10.17214/aot.12475
AMA Peker İ, Yıldırım Biçer AZ, Bozkaya E, Alkurt MT, Sadık E, Kayaoğlu G. A rare clinical presentation of Axenfeld-Rieger syndrome: case report. Acta Odontol Turc. Ağustos 2014;31(3):143-148. doi:10.17214/aot.12475
Chicago Peker, İlkay, Arzu Zeynep Yıldırım Biçer, Erdal Bozkaya, Meryem Toraman Alkurt, Elif Sadık, ve Güven Kayaoğlu. “A Rare Clinical Presentation of Axenfeld-Rieger Syndrome: Case Report”. Acta Odontologica Turcica 31, sy. 3 (Ağustos 2014): 143-48. https://doi.org/10.17214/aot.12475.
EndNote Peker İ, Yıldırım Biçer AZ, Bozkaya E, Alkurt MT, Sadık E, Kayaoğlu G (01 Ağustos 2014) A rare clinical presentation of Axenfeld-Rieger syndrome: case report. Acta Odontologica Turcica 31 3 143–148.
IEEE İ. Peker, A. Z. Yıldırım Biçer, E. Bozkaya, M. T. Alkurt, E. Sadık, ve G. Kayaoğlu, “A rare clinical presentation of Axenfeld-Rieger syndrome: case report”, Acta Odontol Turc, c. 31, sy. 3, ss. 143–148, 2014, doi: 10.17214/aot.12475.
ISNAD Peker, İlkay vd. “A Rare Clinical Presentation of Axenfeld-Rieger Syndrome: Case Report”. Acta Odontologica Turcica 31/3 (Ağustos 2014), 143-148. https://doi.org/10.17214/aot.12475.
JAMA Peker İ, Yıldırım Biçer AZ, Bozkaya E, Alkurt MT, Sadık E, Kayaoğlu G. A rare clinical presentation of Axenfeld-Rieger syndrome: case report. Acta Odontol Turc. 2014;31:143–148.
MLA Peker, İlkay vd. “A Rare Clinical Presentation of Axenfeld-Rieger Syndrome: Case Report”. Acta Odontologica Turcica, c. 31, sy. 3, 2014, ss. 143-8, doi:10.17214/aot.12475.
Vancouver Peker İ, Yıldırım Biçer AZ, Bozkaya E, Alkurt MT, Sadık E, Kayaoğlu G. A rare clinical presentation of Axenfeld-Rieger syndrome: case report. Acta Odontol Turc. 2014;31(3):143-8.