Article Data

  • Views 2260
  • Dowloads 212

Original Research

Open Access

Axenfeld-Rieger Syndrome: Report on dental and craniofacial findings

  • Ashok Kumar Jena1
  • Om P Kharbanda1,*,

1Centre for Dental Education and Research, All India Institute of Medical Sciences, New Delhi

DOI: 10.17796/jcpd.30.1.v1732398454r0244 Vol.30,Issue 1,September 2005 pp.83-88

Published: 01 September 2005

*Corresponding Author(s): Om P Kharbanda E-mail: ompk@aiims.ac.in

Abstract

Axenfeld-Rieger syndrome is a rare autosomal dominant disorder characterized by various ocular and extraocular malformations. Dental abnormalities are considered as definitive features for the diagno-sis and differentiation of Rieger syndrome from other anterior chamber of the eye malformations. A case of Rieger syndrome with distinct dental and craniofacial anomalies is described. Significant cranio-dento-facial findings that have been observed are, teeth with short and dilacerated roots, hyper-plastic frenums and underdeveloped maxilla. There was an anterior crossbite, bilateral posterior open-bite and moderate to severe anterior crowding.

Cite and Share

Ashok Kumar Jena,Om P Kharbanda. Axenfeld-Rieger Syndrome: Report on dental and craniofacial findings. Journal of Clinical Pediatric Dentistry. 2005. 30(1);83-88.

References

1. Shields MB, Buckley E, Klintworth GK, Thresher R. Axenfeld-Rieger Syndrome. A spectrum of developmental disorders. Surv Opthalmol 29: 387–409, 1985.

2. Jorgensen RJ,Yoder FE, Levin LS.The Rieger syndrome (letter). J Med Genet 16: 236, 1979.

3. Singh J, Pannu K, Lehl G. The Rieger syndrome: orofacial manifestations. Case report of a rare condition. Quintessence Int 34: 689–692, 2003.

4. Legius E, de Die Smlders CE, Verbraak F, et al: Genetic hetero-geneity in Rieger eye malformation. J Med Genet 31: 340, 1994.

5. Fitch N, Kaback M: The Axenfeld syndrome and the Rieger syn-drome. J Med Gen 15: 30, 1978.

6. Gorlin RJ, Pindborg JJ, Cohen MM. Syndromes of head and neck. 2 Ed, New York: McGraw-Hill, 1976, 649–651.

7. Feingold M, Shiere F, Fogels HR, Donaldson D. Rieger syn-drome. Pediatrics 44: 564–569, 1969.

8. Chisholm IA, Chudley AE. Autosomal dominant iridogoniodys-genesis with associated somatic anomalies: four generation fam-ily with Rieger’s syndrome. Br J Opthalmol 67: 529–534, 1983.

9. Rieger H. Beitrage zur Kenntnis seltener Missbildungen der Iris. II. Uber Hyploplasie des Irisborderblattes mit Verlagerung and Entrundung der Pupille Graefes Arch Klin Exp Ophthamol 133: 602, 1934.

10. Langdon JD. Rieger syndrome. Oral Surg Oral Med Oral Pathol 30: 788–795, 1970.

11. Alkemade PPH. Dysgenesis mesodermalis of the iris and cornea: a study of Rieger syndrome and Peter’s anomaly. Assen, The Netherlands: Van Gorcum, 1969.

12. Cross HE, Jorgenson RJ, Levin LS, Kelly TE. The Rieger syn-drome? An autosomal dominant disorder with ocular, dental and systemic abnormalities. Perspect Ophthalmol 3: 3–16, 1979.

13. Sadeghi-Nejad A, Senior B. Autosomal dominant transmission of isolated growth hormone deficiency in iris-dental dysplasia (Rieger’s syndrome). J Pediatrics 85: 644–648, 1974.

14. Jordan RM, Kendall JW, Kerber CW. The primary empty sella syndrome. Am J Med 62: 569, 1977.

15. Kleinman RE, Kazarian EL, Raptopoulos V, Braverman LE. Primary empty sella and Rieger’s anomaly of the anterior cham-ber of the eye. A familial syndrome. N Eng J Med 304: 90–93, 1981.

16. Crawford RAD. Iris dysgenesis with other anomalies. Br J Ophthalmol 51: 438–440, 1967.

17. Schachenmann G, Schmid W, Fraccaro M, et al. Chromosomes in coloboma and anal atresia. Lancet 2: 290, 1965.

18. Brooks JK, Coccaro PJ, Zarbin MA. The Rieger anomaly con-comitant with multiple dental, craniofacial and somatic midline anomalies and short stature. Oral Surg Oral Med Oral Pathol 68: 717–724, 1989.

19. Sensenbrenner JA, Hussels IE, Levin LS. A low birthweight syn-drome? Rieger syndrome. Birth defects: Original Article Series 11: 423–426, 1975.

20. Gorlin R, Cervenka J, Moller K, Horrobin M, Witkop C. Rieger anomaly and growth retardation (the S-H-O-R-T syndrome). Birth Defects: Original Article Series 11: 46–48, 1975.

21. Nielsen F, Tranebjaerg L. A case of partial monosomy 21q22.2 associated with Rieger syndrome. J Med Genet 21: 218–221, 1984.

22. Jorgensen RJ, Levin LS, Cross HE,Yoder F, Kelly TE.The Rieger syndrome. Am J Med Genet 2: 307–318, 1978.

23. Frandsen E. Rieger’s syndrome combined with oligodontia and finger deformity. Acta Ophthalmol (Copenh) 41: 757–767, 1963.

24. Mills WD. Mesodermal dysgenesis of the anterior segment of the eye. Can J Ophthalmol 2: 279–283, 1967.

25. Wilson JA. A case of partial anodontia. Br Dent J 99: 199–200, 1955.

26. Judisch GF, Phelps CD, Hanson J. Rieger’s syndrome: a case report with a 15-year follow-up. Arch Ophthalmol 97: 2120–2122, 1979.

27. Ligutic I, Brecevic L, Petkovic I, Kalogjera T, Rajic Z. Interstitial deletion 4q and Rieger syndrome. Clin Genet 20: 323–327, 1981.

28. Breebaart AC. A case of Rieger’s anomaly with glaucoma- influ-ence of sleep. Arch Ophtholmol 76: 825–828, 1966.

29. Childers NK, Wright JT. Dental and craniofacial anomalies of Axenfeld-Rieger syndrome. J Oral Pathol 15: 534–539, 1986.

30. Shields MB. Axenfeld-Rieger syndrome: a theory of mechanism and distinction from the iridocorneal endothelial syndrome. Trans Am Ophthalmol Soc 81: 736–784, 1983.

31. Callahan A. Multiple abnormalities of the iris (mesodermal tis-sue, atrophy and holes) with secondary glaucoma and deafness (histologic examination of one eye). Am J Ophthalmol 41: 745–748, 1956.

32. Reddihough DS, Rogers JG, Keith CG. Rieger syndrome with exomphalos. Aust Paediatr J 18: 130–131, 1982.

33. Krespi YP, Pertsemlidis D. Rieger’s syndrome associated with a large Meckel’s diverticulum. Am J Gastroenterol 71: 608–610, 1979.

34. Drum MA, Kaiser-Hupfer MI, Guckes AD, Roberts MW. Oral manifestations of Rieger syndrome: report of case. J Am Dent Assoc 110: 343–346, 1985.

35. Kanski J: Clinical Ophthalmology: A Systematic Approach. London, Butterworths, 1978, pp 226–227.

36. Vaughan D, Asbury T: General Ophthalmology. Norwalk, CT. Lange Medical Publication, 1992, p 223.

37. Kleinmann RE: Rieger’s anomaly and syndrome. N Engl J Med 304: 1173, 1981.

38. Megighian D, Savastano M, Poli P. Rieger syndrome: case report. Int Tinnitus J 9: 134–137, 2003.

39. Ginter M, Krawezynski M: Rieger’s syndrome in a 12 years old girl. Klin Oczna 96: 347, 1994.


Submission Turnaround Time

Top