2012, Number 3
Waardenburg's syndrome: clinical classification of a family
Language: Spanish
References: 14
Page: 161-171
PDF size: 315.07 Kb.
ABSTRACT
Background: Although sensorineural hearing loss and iris pigmentary changes have been described, the association betwe en these two elements has not been previously studied.Objectives: to describe and analyze the possible association of hypoacusis and the intensity of this with the color of the iris in a family suffering from this syndrome; which will constitute a new co ntribution to the understanding of Waardenburg Syndrome (WS).
Material and Method: an observational, cross -sectional and descriptive case - study was carried out having some analytic aspects in people suffering from WS in Sandino municipality, Pinar del Rio . Measures of review to conduct qualitative variables and chi square test X2 to measure the association of 95% of confidence.
Results: about 15 individuals presented sensorineural hearing loss of different distribution and intensity, prevailing brown and b lue bilateral eyes. A greater frequency of individuals with hypoacusis and blue eyes was found in association between the two variables (X2= 6,47, gl = 1; p = 0.01). Hypoacusis was greater in blue-eyed individuals (85.7% with severe or profound hypoacusis) , three times superior than in the other color of eyes.
Conclusions: an association between the blue color of the iris and the presence of hypoacusis along with a greater intensity of hearing loss in individuals suffering from WS was observed.
REFERENCES
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Pardono E, Van Bever Y, Van den Ende J, Havrenne PC, Iughetti P, Maestrelli S, et al. Waardenburg syndrome: clinical d ifferentiation between types I and II. Am J Med Genet. 2003; 117A:223-5. En: http://genoma.ib.usp.br/wordpress/wp - content/uploads/2011/04/2003 -pardono-van.bever-van.den_.ende-havrenneiughetti- maestrelli-costa-richieri.costa-frota.pessoa-otto.pdf. Acceso: 20-05-2010
Gad A, Laurino M, Maravilla K R, Matsushita M, Raskind W H.Sensorineural Deafness, Distinctive Facial Features and Abnormal Cranial Bones a New Variant of Waardenburg Syndrome?. Am J Med Genet A. 2008 July 15; 146A(14): 1880 -1885. En: http://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.32402/pdf. Acceso: 13 -12- 10
Huang BY,Zdanski C,Castillo M. Pediatric Sensorineural Hearing Loss Syndromic and Acquired Causes: Waardenburg Syndrome - Published May 19, 2011 as 10 3174/ajnr.A2499: Pediatric Sens orineural Hearing Loss, Part 2: en: http://www.ajnr.org/content/early/2011/05/19/ajnr.A2499.full.pdf+html. Acceso: 17-02-12
Molho- Pessach V, Suarez J, Perrin C, Chiaverini C, Doviner V, Tristan - Clavijo E, Colmenero I, Giuliano F, Torrelo A , Zlotogorski A: The H syndrome: two novel mutations affecting the same amino acid residue of hENT3. J Dermatol Sci 2010; 57:59-61. http://digital.csic.es/handle/10261/38886 . Acceso 20-02-12