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Revista de Ciencias Médicas de Pinar del Río

ISSN 1561-3194 (Electronic)
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2012, Number 6

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Rev Ciencias Médicas 2012; 16 (6)

Waardenburg's syndrome: disabilities and physical features, association with academic achievement and social relations

Castro PF, Sanabria NJG, Torres CM, Iviricu TRJ, González SH
Full text How to cite this article

Language: Spanish
References: 9
Page: 15-23
PDF size: 116.55 Kb.


Key words:

Waardenburg's syndrome/complications.

ABSTRACT

Introduction: Waardenburg's syndrome is a rare entity, having a certain degree of disability when sensorineural hypoacusis and visual disability appear. A family of 26 carriers (all them alive) of Waardenburg's syndrome who lives in Sandino municipality, Pinar del Rio province was detected.
Objective: to determine the possible association of disabilities with academic achievement and social relations among these subjects.
Material and method: an observational, cross-sectional and descriptive case-study was carried out with people belonging to a family suffering from Waardenburg's syndrome in Sandino municipality.
Results: this research incorporates important aspects of Waardenburg's syndrome not previously described; which offer the possibility of showing them in a new way to improve and update knowledge of this entity.
Conclusions: hearing disabilities together with physical features were the main difficulties to find a job and to perform it efficiently in people suffering from Waardenburg's syndrome.


REFERENCES

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  2. Farrer LA, Grundfest KM, Amos J, Arnos KS, Asher JH, Beighton P, et al. Waardenburg syndrome (WS) type I is caused by defects at multiple loci, one of which is near ALPP on chromosome 2: first report of the WS consortium. Am J Hum Genet [Internet]. 1992 [citado 26 Abr 2009]; 50: [Aprox. 5p.]. Disponible en:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1682585/pdf/ajhg00076-0021.pdf

  3. Huang BY, Zdanski C, Castillo M. Pediatric Sensorineural Hearing Loss Syndromic and Acquired Causes: Waardenburg Syndrome. AJNR [Internet]. 2011 May-19 [citado 17 Feb 2012]; 10: [Aprox. 8p.]. Disponible en:http://www.ajnr.org/content/early/2011/05/19 /ajnr.A2499.full.pdf+html

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Rev Ciencias Médicas. 2012;16