Smaragda Kavadia1, Konstantinos Antoniades2, Eleni Markovitsi1, Eleftherios G. Kaklamanos3
1 Department of Orthodontics, School of Dentistry, Faculty of Health Sciences, Aristotle University of Thessaloniki, Thessalonki, Greece
2 Department of Oral and Maxillofacial Surgery, School of Dentistry, Faculty of Health Sciences, Aristotle University of Thessaloniki, Thessalonki, Greece
3 Hamdan Bin Mohammed College of Dental Medicine, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai, United Arab Emirates
Summary
Background/Aim: The Rieger syndrome is a rare, autosomal dominant and phenotypically variable disorder, characterized by abnormalities of the anterior chamber of the eye, coincident with missing or misshapen teeth. Case report: This report features a case of the Rieger syndrome associated with bilateral cleft lip and palate and a severe open bite, findings not usually reported in association with this condition. Conclusions: The findings described in the present case of Rieger syndrome are unusual and expand the spectrum of manifestations of the condition.
Keywords: Rieger Syndrome; Hypodontia; Iridogoniodysgenesis; Cleft Lip And Palate
Reference
1. Waldron JM, McNamara C, Hewson AR, McNamara CM. Axenfeld-Rieger syndrome (ARS): A review and case report. Spec Care Dentist, 2010;30:218-222.Google Scholar
2. O’Dwyer EM, Jones DC. Dental anomalies in Axenfeld- Rieger syndrome. Int J Paediatr Dent, 2005;15:459-463.CrossrefWeb of ScienceGoogle Scholar
3. Jena AK, Kharbanda OP. Axenfeld-Rieger syndrome: report on dental and craniofacial findings. J Clin Pediatr Dent, 2005;30:83-88.Google Scholar
4. Singh J, Pannu K, Lehl G. The Rieger syndrome: orofacial manifestations. Case report of a rare condition. Quintessence Int, 2003;34:689-692.Google Scholar
5. Ligutic I, Brecevic L, Petkovic I, Kalogjera T, Rajic Z. Interstitial deletion 4q and Rieger syndrome. Clin Genet, 1981;20:323-327.CrossrefGoogle Scholar
6. Brooks JK, Coccaro PJ, Zarbin MA. The Rieger anomaly concomitant with multiple dental, craniofacial, and somatic midline anomalies and short stature. Oral Surg Oral Med Oral Pathol, 1989;68:717-724.Google Scholar
7. Spallone A. Retinal detachment in Axenfeld-Rieger syndrome. Br J Opthalmol, 1989;73:559-562.Google Scholar
8. Childers NK, Wright JT. Dental and craniofacial anomalies of Axenfeld-Rieger syndrome. J Oral Pathol, 1986;15:534-539.Google Scholar
9. Gorlin RJ, Cohen MM, Levin LS. Syndromes of the Head and Neck. 3rd ed. Oxford Monographs on Medical Genetics No. 19. New York: Oxford University Press; 1990.Google Scholar
10. Drum MA, Kaiser-Kupfer MI, Guckes AD, Roberts MW. Oral manifestations of the Rieger syndrome: report of case. J Am Dent Assoc, 1985;110:343-346.Google Scholar
11. Tewari S, Govila CP, Garg AP. Rieger’s syndrome. J Oral Pathol Med, 1991;20:514-515.CrossrefGoogle Scholar
12. Fitch N, Kaback M. The Axenfeld syndrome and the Rieger syndrome. J Med Genet, 1978;15:30-34.Google Scholar
13. Sadeghi-Nejad A, Senior B. Autosomal dominant transmission of isolated growth hormone deficiency in iris-dental dysplasia (Rieger’s syndrome). J Pediatr, 1974;85:644-8.Google Scholar
14. Gorlin RJ, Cervenka J, Moller K, Horrobin M, Witkop C. Rieger anomaly and Growth retardation (the S-H-OR- T syndrome). Birth defects: Original Article Series, 1975;11:46-48.Google Scholar
15. Sensenbrenner JA, Hussels IE, Levin LS. A low birthweight syndrome? Rieger syndrome. Birth Defects: Original Article Series, 1975;11:423-426.Google Scholar
16. Aarskog D, Ose L, Pande H, Eide N. Autosomal dominant partial lipodystrophy associated with Rieger anomaly, short stature, and insulinopenic diabetes. Am J Med Genet, 1983;15:29-38.Google Scholar
17. Cross HE, Jorgenson RJ, Levin LS, Kelly TE. The Rieger syndrome? An autosomal dominant disorder with ocular, dental and systemic abnormalities. Perspect Ophthalmol, 1979;3:3-16.Google Scholar
18. Jorgenson RJ, Levin LS, Cross HE, Yoder F, Kelly TE. The Rieger syndrome. Am J Med Genet, 1978;2:307-318.CrossrefGoogle Scholar
19. Friedman JM. Umbilical dysmorphology: the importance of contemplating the belly button. Clin Genet, 1985;28:343-347.Google Scholar
20. Langdon JD. Rieger’s syndrome. Oral Surg. 1970; 30:788-795.Google Scholar
21. Vaughan D, Asbury T. General Opthalmology. Norwalk: Lange Medical Publication; 1992. p. 223.Google Scholar
22. Amendt BA, Semina EV, Alward WL. Rieger syndrome: a clinical molecular, and biochemical analysis. Cell Mol Life Sci, 2000;57:1652-1666.CrossrefGoogle Scholar
23. Legius E, de Die Smlders CE, Verbraak F, Habex H, Decorte R, Marynen P, Fryns JP, Cassiman JJ. Genetic heterogeneity in Rieger eye malformation. J Med Genet, 1994;31:340-341.CrossrefGoogle Scholar
24. Motegi T, Nakamura K, Terakawa T, Akuta N, Yanagawa Y, Hayakawa H. Deletion of a single chromosome band 4q26 in a malformed girl: exclusion of Rieger syndrome associated gene(s) from the 4q26 segment. Am J Hum Genet, 1987;41:76A.Google Scholar
25. Motegi T, Nakamura K, Terakawa T, Oohira A; Minoda K, Kishi K, Yanagawa Y, Hayakawa H. Deletion of a single chromosome band 4q26 in a malformed girl: exclusion of Rieger syndrome associated gene(s) from the 4q26 segment. J Med Genet, 1988;25:628-633.CrossrefGoogle Scholar
26. Shiang R, Bell G, Divelbiss JE, Haskins-Onley A, Overhauser J, Wasmuth J, Murray JC. Mapping of ADH3, EGF, and IL2 in a patient with Riegers-like phenotype and 4q23-q27 deletion. Am J Hum Genet, 1987;41:185A.Google Scholar
27. Murray JC, Bennet SR, Kwitek AE, Small KW, Schinzel A, Alward WLM, Weber JL, Bell GI, Buetow KH. Linkage of Rieger syndrome to the region of the epidermal growth factor gene on chromosome 4. Nature Genet, 1992;2:46-49.CrossrefGoogle Scholar
28. Semina EV, Datson NA, Leysens NJ, Zabel BU, Carey JC, Bell GI, Bitoun P, Lindgren C, Stevenson T, Frants RR, van Ommen G, Murray JC. Exclusion of epidermal growth factor and high-resolution physical mapping across the Rieger syndrome locus. Am J Hum Genet, 1996;59:1288-1296.Google Scholar
29. Semina EV, Reiter R, Leysens NJ, Alward WL, Small KW, Datson NA, Siegel-Bartelt J, Bierke-Nelson D, Bitoun P, Zabel BU, Carey JC, Murray JC. Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome. Nat Genet, 1996;14:392-396.CrossrefGoogle Scholar
30. Mucchielli ML, Mitsiadis TA, Raffo S, Brunet JF, Proust J, Goridis C. Mouse Otlx2/RIEG expression in the odontogenic epithelium precedes tooth initiation and requires mesenchyme-derived signals for its maintenance. Dev Biol, 1997;2:275-284.CrossrefGoogle Scholar
31. Thelseff I, Rice D. Identification of EDA and other hypodontia genes and analysis of their functions in mouse models. In: Bergendal B, Koch G, Kurol J, Wanndahl G, editors. Consensus Conference on Ectodermal Dysplasia with Special Reference to Dental Treatment. Jonkoping: The Institute for Postgraduate Dental Education; 1998. p. 32-40.Google Scholar
32. Saadi I, Semina EV, Amendt BA, Harris DJ, Murphy KP, Murray JC, Russo AF. Identification of a dominant negative homeodomain mutation in Rieger syndrome. J Biol Chem, 2001;276:23034-23041.Google Scholar
33. Akazawa K, Yamane S, Shiota H, Maito E. A case of retinoblastoma associated with Rieger’s anomaly and 13q deletion. Jpn J Opthal, 1981;25:321-325.Google Scholar
34. Stathakopoulos RA, Bateman JB, Sparkes RS, Hepler RS. The Rieger syndrome and a chromosome 13 deletion. J Pediatr Ophthal Strabismus, 1987;24:198-203.Google Scholar
35. Phillips JC, Del Bono EA, Haines JL, Pealea AM, Cohen JS, Greff LJ, Wiggs JL. A second locus for Rieger syndrome maps to chromosome 13q14. Am J Hum Genet, 1996;59:613-619.Google Scholar
36. Shields MB, Buckley E, Klintworth GK, Thresher R. Axenfeld-Rieger syndrome. A spectrum of developmental disorders. Surv Ophthalmol, 1985;29:387-409.CrossrefGoogle Scholar
37. Nielsen F, Tranebjaerg L. A case of partial monosomy 21q22.2 associated with Rieger’s syndrome. J Med Genet, 1984;21:218-221.CrossrefGoogle Scholar
Balkan Journal of Dental Medicine, Volume 22, Issue 1, Pages 53–56, ISSN (Online) 2335-0245,DOI: https://doi.org/10.2478/bjdm-2018-0010.