Rieger Syndrome: Case Report

International Tinnitus Journal

Volumn 9, Issue 2, 2003, Pages 134-137

  Megighian, David ^a   Savastano, Marina ^a,c   Poli, Paolo ^b  

^a UNIVERSITY OF PADOVA   (Italy)

^b Headache Unit   (Italy)

^c Sezione ORL   (Italy)

Author keywords

Hearing loss; Rieger syndrome

Indexed keywords

ADULT; ARTICLE; AUDIOMETRY; AXENFELD RIEGER SYNDROME; CASE REPORT; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; DISEASE ACTIVITY; GENETIC ANALYSIS; HUMAN; INNER EAR; IRIS; MALE; PRIORITY JOURNAL; RIEGER SYNDROME; TEMPORAL BONE;

ADULT; ATROPHY; AUDIOMETRY, PURE-TONE; AUDITORY THRESHOLD; BRAIN STEM; EAR, INNER; EYE ABNORMALITIES; GLAUCOMA; HEARING LOSS, SENSORINEURAL; HUMANS; IRIS; MALE; SYNDROME; TOMOGRAPHY, X-RAY COMPUTED;

EID: 1642495792     PISSN: 09465448     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (27)

1. Lyndsay JR. Inner ear pathology in congenital deafness. Otolaryngol Clin North Am 4:249-290, 1971.
2. Jensen J. Preliminary communication on tomographic visualization of inner ear malformations. Ann Radiol (Paris) 11(5):477-483, 1968.
3. Rieger H. Dysgenesis mesodermalis corneae et iridis. Augenheilkunde 56:333-335, 1935.
4. Chisholm JA, Chudley AE. Autosomal dominant iridogoniodysgenesis with associated somatic anomalies: Four-generation family with Rieger syndrome. Br J Ophthalmol 67:529-534, 1983.
5. Cross HE, Jorgenson RJ, Levin LS, Kelly TE. The Rieger syndrome: An autosomal dominant disorder with ocular, dental and systemic abnormalities Perspect Ophthalmol 3:3-16, 1979.
6. Drum MA, Kaiser-Kupfer MI, Guckes AD, Roberts MW. Oral manifestations of the Rieger syndrome: Report of case. J Am Dent Assoc 110:343-346, 1985.
7. Ginter M, Krawczynski M. Rieger's syndrome in a 12-year-old girl. Klin Oczna 96:347-350, 1994.
8. Mammi I, De Giorgio P, Clementi M, Tenconi R. Cardiovascular anomaly in Rieger syndrome: Heterogeneity or contiguity? Acta Ophthalmol Scand 76:509-512, 1998.
9. Baart JA, van Hagen JM, Swart-van der Berg M. Syndrome 22: Rieger's syndrome. Ned Tijdschr Tandheelkd 107:332-333, 2000.
10. Takamura K, Okishima T, Ohdo S, Hayakawa K. Association of cephalic neural crest with cardiovascular development, particularly that of semilunar valves. Anat Embryol 182:263-272, 1990.
11. Cunningham ET Jr, Eliott HD, Miller NR, et al. Familial Axenfeld-Rieger anomaly, atrial septal defect, and sensorineural hearing loss: A possible new genetic syndrome. Arch Ophthalmol 116:78-82, 1998.
12. Needet A, Bekir NA, Kivanç L, Güngör K. Atrial septal defect with interatrial aneurysm and Axenfeld-Rieger syndrome. Acta Ophthalmol Scand 78:101-103, 2000.
13. Tsai JC, Grajewski AL. Cardiac valvular disease and Axenfeld-Rieger syndrome. Am J Ophthalmol 118:255-256, 1994.
14. Moog U, Bleeker-Wagemakers EM, Crobach P, et al. Sibs with Axenfeld-Rieger anomaly, hydrocephalus and leptomeningeal calcifications: A new autosomal recessive syndrome? Am J Med Genet 7(78):263-266, 1998.
15. De Hauwere RC, Leroy JG, Adriassens K, Van Heule R. The Rieger syndrome: Iris dysplasia, orbital hypertelorism and psychomotor retardation. A dominantly inherited developmental syndrome. J Pediatr 82:679-681, 1973.
16. Fitch N, Kaback M. The Axenfeld syndrome and the Rieger syndrome. J Med Genet 15:30-34, 1978.
17. Borges AS, Susanna R, Carani JC. Genetic analysis of PITX2 and FOXC1 in Rieger syndrome patients from Brazil. J Glaucoma 11:51-56, 2002.
18. Datson NA, Semina E, van Staalduinen AAA. Closing in on the Rieger syndrome gene on 4q25: Mapping translocation breakpoints within a 50-kb region. Am J Hum Genet 59:1297-1305, 1996.
19. Hjalt TA, Amendt BA, Murray JC. PITX2 regulates procollagen lysyl hydroxylase (PLOD) gene expression: Implications for the pathology of Rieger syndrome. J Cell Biol 152:545-552, 2001.
20. Semina EV, Datson NA, Leysens N, et al. Exclusion of epidermal growth factor and high-resolution physical mapping across the Rieger syndrome locus. Am J Hum Genet 59(6):1288-1296, 1996.
21. Suh H, Gage PJ, Drouin J, Camper SA. Pitx2 is required at multiple stages of pituitary organogenesis: Pituitary primordium formation and cell specification. Development 129:329-337, 2002.
22. Riise R, Storhaug K, Brondum-Nielsen K. Rieger syndrome is associated with PAX6 deletion. Acta Ophthalmol Scand 79:201-203, 2001.
23. Mirzayans F, Gould DB, Héon E, et al. Axenfeld-Rieger syndrome resulting from mutation of the FKHL7 gene on chromosome 6p25. Eur J Hum Genet 8(1):71-74, 2000.
24. Schilds MB, Buckley E, Klintworth GK, Tresher R. Axenfeld-Rieger syndrome. A spectrum of developmental disorders. Surv Ophthalmol 29:387-409, 1985.
25. Murray JC, El-Shanti H, Lindgren C, et al. Combined mapping approaches to Rieger syndrome. Am J Hum Genet 53:141-144, 1993.
26. Wenstrom KD, Muilenburg AC, Patil SR, Hanson JW. Unique phenotype associated with a pericentric inversion of chromosome 6 in three generations. Am J Med Genet 1(39):102-105, 1991.
27. Joo SH, Raygada M, Gibney S, et al. Case report on short syndrome. Clin Dysmorphol 8:219-221,1999.