Characterization of hearing loss in Waardenburg syndrome

Authors

  • Fidel Castro Pérez Policlínico Universitario "Ernesto Che Guevara", Sandino
  • Milagros Ramos Cruz Hospital Pediátrico "Pepe Portilla", Pinar del Río.
  • Mayda Martínez Caballero Hospital Pediátrico "Pepe Portilla".
  • Marlen Cruz Menor Hospital General Docente Abel Santamaría Cuadrado

Keywords:

Waardenburg syndrome/epidemiology, Hearing loss.

Abstract

Introduction: sensorineural hearing loss is one of the main symptoms of Waardenburg syndrome. Twenty six (26) individuals of a family living in Sandino municipality are carriers of this genetic entity.

Objective: to characterize hearing loss in people affected by Waardenburg syndrome.

Material and methods: a descriptive, longitudinal and prospective study was carried out with people affected by hearing loss belonging to a family who suffers from Waardenburg syndrome in Sandino municipality.

Results: this research incorporates important aspects of hearing loss in cases affected by Waardenburg syndrome, not described before, offering the possibility to present them in a new way to develop and update knowledge about this genetic disease. 

Conclusions: sensorineural hearing loss analyzed in these cases presented a cochlear location, although in some cases, associated retrocochlear injury is not discarded, and its intensity may be increased by noise exposure.

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Author Biographies

Fidel Castro Pérez, Policlínico Universitario "Ernesto Che Guevara", Sandino

Graduado de Dr. En Medicina en 1984.

Especialista de Primer Grado en Otorrinolaringología 1991

Especialista de Segundo Grado en Otorrinolaringología en 2008

Profesor Auxiliar en 2008.

Máster en Atención Integral al niño en 2008.

Investigador Agregado 2009.

Milagros Ramos Cruz, Hospital Pediátrico "Pepe Portilla", Pinar del Río.

Especialista de Primer Grado en Otorrinolaringologia. Máster en Atencion Integral al Niño. Profesora Auxiliar.

Mayda Martínez Caballero, Hospital Pediátrico "Pepe Portilla".

Licenciada en Logofonoaudiología.  Instructora.

Marlen Cruz Menor, Hospital General Docente Abel Santamaría Cuadrado

Especialista de Priomer Grado en Fisiología Normal y Patológica y Medicina General Integral.

References

1.Carvajal Bermejo MJ, Bermejo Guerra S. Hipoacusia genética en niños atendidos en el Centro Auditivo de La Habana 2006-2011. Rev Cubana Otorrinolaringología Cirugía Cabeza y Cuello. 2014; 2 (1): 27-45. En http://www.revotorrino.sld.cu/index.php/otl/article/view/39 Acceso, 15-07-15

2. Santana Hernández E E, Tamayo Chang V J. .Síndrome Waardenburg. Presentación de una familia afectada. Gaceta Médica Espirituana, Vol 17, No 3 (2015). http://scielo.sld.cu/scielo.php?pid=S1608-89212015000300020&script=sci_arttext&tlng=pt Acceso: 26-12-15

3. Teixeira Naia MJ. Síndrome de Waardenbur: uma nova terapia [ Tesis]. Covilha: Ciencias Biomédicas [Internet].; 2012. En; https://www.researchgate.net/profile/Maria_Naia/publication/277191527_Sndrome_de_Waardenburg/links/55644eb808ae9963a11f245c.pdf Acceso 24-10-15.

4. Modjtahedi BS, Alikhan A, Maibach HI, Schwab IR. Diseases of periocular hair. Rev Epub [internet]. 2011 sep- oct [citado 3 Octubre 2015]; 56(5): [aprox. 16 p.]. Disponible en: http://www.sciencedirect.com/science/article/pii/S003962571100035X

5. Fernández RM, Núñez-Ramos R, Enguix-Riego MV, Román-Rodríguez FJ, Galán-Gómez E, et al. Waardenburg syndrome type 4: report of two new cases caused by SOX10 mutations in Spain. Am J Med Genet A [Internet]. 2014 Feb [cited: 2015 Ene];164A(2):542-7. Available from: http://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.36302/full.

6. Castiglione A, Busi M, Martini A. Hearing, Balance and Communication. Rev Healthcare. 2015; 13(2): 146-59.

7. Farrer LA, Grundfast 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. Rev Am J Hum Genet [internet]. 1992 [citado 3 Octubre 2015]; 50: [aprox. 11 p.]. Disponible en: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1682585/

8. Fang Wu T, Li Yao Y, Lu La I, Chen Lai C, Lun Lin P, Ming Yang W. Loading of PAX3 to Mitotic Chromosomes Is Mediated by Arginine Methylation and Associated with Waardenburg Syndrome. Rev Journal of Biological Chemistry [internet]. 2015 ago [citado 3 Octubre 2015]; 290(33): [aprox. 6 p.]. Disponible en: https://www.jbc.org/content/290/33/20556.full

9. Imperato PJ, Imperato GH. Clinical Manifestations of Waardenburg Syndrome in a Male Adolescent in Mali, West Africa. J Community Health [Internet]. 2015 Feb [cited Ene 2015] ;40(1):103-9. Available from: http://link.springer.com/article/10.1007/s10900-014-9942-7/fulltext.html.

10. Wildhardt G, Zirn B, Graul-Neumann LM, Wechtenbruch J, Suckfüll M, Buske A, et al. Spectrum of novel mutations found in Waardenburg syndrome types 1 and 2: implications for molecular genetic diagnostics. BMJ Open [Internet]. 2013 Mar 18 [cited: 2015 Ene]; 3: e001917. Available from: http://bmjopen.bmj.com/content/3/3/e001917.full

11. Zaman A, Capper R, Daddoo W. Waardenburg syndrome: more common than you think. Rev Clin Otolaryngol. 2015; 40(1):44-8. En: http://onlinelibrary.wiley.com/doi/10.1111/coa.12312/epdf . Acceso 21-01-16

12. Llalliré JC, Young Park K, Passarelli M, Petuaud G, Raffo G. Sindrome de Waardenburg. Arch Oftal. B. Aires 2010; 81(2): 59- 61. En: http://www.sao.org.ar/index.php/archivos-de-oftalmologia/ediciones-anteriores/59-publicaciones/archivos-de-oftalmologia/ediciones-anteriores/volumen-81-numero-02/211-sindrome-de-waardenburg Acceso 15-04-2015

13. Reis de Oliveira GH, Diniz Freire AF, Rodrigues Magalhães LM. Síndrome de Waardenburg: relato de casos. Rev Bras Clin Med. 2012 may- jun;10(3):246-8 en: http://files.bvs.br/upload/S/1679-1010/2012/v10n3/a2876.pdf Acceso: 15-04-15

14. Hocsman E, Clara M, Intaschi MJ, Saldaña S. Implante coclear en síndrome de Waardenburg: nuestra experiencia. Rev Faso. 2015; 22(2): 28.Disponible en: http://www.google.com.cu/url?sa=t&rct=j&q=&esrc=s&source=web&cd=1&cad=rja&uact=8&ved=0ahUKEwjovfrxuuvKAhXDtIMKHfRbBYwQFgghMAA&url=http%3A%2F%2Fwww.faso.org.ar%2Frevistas%2F2015%2F2%2F1.pdf&usg=AFQjCNG57BlDeaPNo5RuIOFPxskosPRscw.

15. Castro Pérez F. Sanabria Negrín J G, Menéndez Gracia R, Iviricu Tielves RJ, Santana Oruña J. Color del iris e hipoacusia en el Síndrome de Waardenburg: Pinar del Río, Cuba. Rev. de Ciencias Médicas. junio 2012; 16(3). http://publicaciones.pri.sld.cu/index.php?option=com_content&task=view&id=35&Itemid=54

Published

2016-06-24

How to Cite

1.
Castro Pérez F, Ramos Cruz M, Martínez Caballero M, Cruz Menor M. Characterization of hearing loss in Waardenburg syndrome. Rev Ciencias Médicas [Internet]. 2016 Jun. 24 [cited 2025 Aug. 21];20(2):220-5. Available from: https://revcmpinar.sld.cu/index.php/publicaciones/article/view/2517

Issue

Section

ORIGINAL ARTICLES