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2015, Number 3

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Gaceta Médica Espirituana 2015; 17 (3)

Syndrome Waardenburg. Presentation of an affected family

Santana HEE, Tamayo CVJ

Language: Spanish
References: 10
Page:
PDF size: 121.87 Kb.


ABSTRACT

Background: The syndrome of Waardenburg is a genetic illness characterized by anomalies of the pigmentation and neurosensory deafness. Several clinical types are described, with great genetic heterogeneity; most of the published cases present a pattern of autos’omico dominant inheritance, although other inheritance forms are described. Objective: To show a representative family with several affected members of variable expression. Case presentation: A family is presented with seven sick persons where the hypo acoustic of variable grade prevail the same as the alterations of the pigmentation of the skin, the hair and the iris. The appropriate diagnose and genetic advice, together to the opportune intervention with the cochlear implants has allowed the adapted incorporation in the normal teaching to these sick persons. Conclusions: It is important the opportune diagnosis to carry out actions with the purpose of improving the quality of life and the correct social incorporation of these patients.


REFERENCES

  1. Demirci GT, Atıs G, Altunay IK. Waardenburg Syndrome type 1: A case report. Dermatol Online J [Internet]. 2011 Nov [cited: 2015 Ene];17(11):3. Available from: http://escholarship.org/uc/item/14k128r2

  2. Zaman A, Capper R, Baddoo W. Waardenburg Syndrome: More common than you think. Clin Otolaryngol [Internet]. 2015 Feb [cited: 2015 Ene]; 40(1):44-8. Available from: http://onlinelibrary.wiley.com/doi/10.1111/coa.12312/abstract;jsessionid=7C7248A9EABC15B

  3. 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://download.springer.com/static/pdf/355/art%253A10.1007%252Fs10900-014-9942-7.pdf?originUrl=http%3A%2F%2Flink.springer.com%2Farticle%2F10.1007%2Fs10900-014-9942-7&token2=exp=1442417981~acl=%2Fstatic%2Fpdf%2F355%2Fart%25253A10.1007%25252Fs10900-014-9942-7.pdf%3ForiginUrl%3Dhttp%253A%252F%252Flink.springer.com%252Farticle%252F10.1007%252Fs10900-014-9942-7*~hmac=696b1f065312e62d4cdcfaf74316ab4edc7a991d51a4024ce14903fa328d264b

  4. Chen K, Zong L, Liu M, Zhan Y, Wu X, Zou W, Jiang H. De novo dominant mutation of SOX10 gene in a Chinese family with Waardenburg syndrome type II. Int J Pediatr Otorhinolaryngol [Internet]. 2014 Jun [cited Ene 2015];78(6):926-9. Available from: http://www.ijporlonline.com/article/S0165-5876%2814%2900146-3/abstract

  5. Jelena B, Christina L, Eric V, Fabiola QR. Phenotypic variability in Waardenburg syndrome resulting from a 22q12.3-q13.1 microdeletion involving SOX10. Am J Med Genet A [Internet]. 2014 Jun [cited 2014 Ago];164A(6):1512-9. Available from: http://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.36446/epdf

  6. Mahmoudi A, Rami M, Khattala K, Elmadi A, Afifi MA, Youssef B. Shah-Waardenburg syndrome. Pan Afr Med J [Internet]. 2013 [2015 Ene];14:60. Available from: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3617621/

  7. 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(3):pii: e001917. Available from: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3612789/

  8. Nasser LS, Paranaíba LM, Frota AC, Gomes A, Versiani G, Martelli Júnior H. Waardenburg syndrome--ophthalmic findings and criteria for diagnosis: case reports. Arq Bras Oftalmol [Internet]. 2012 Oct [cited: 2015 Ene];75(5):352-5. Available from: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-27492012000500012&lng=en&nrm=iso&tlng=en

  9. 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://www.ncbi.nlm.nih.gov/pubmed/?term=Waardenburg+syndrome+type+4%3A+report+of+two+new+cases+caused+by+SOX10+mutations+in+Spain.+Am+J+Med+Genet+A

  10. Traoré H, Traoré D, Ouane O, Simpara B, Ongoiba N. A case report on Waardenburg syndrome with cleft lip. Mali Med [Internet]. 2011 [cited: 2015 Ene];26(3):53-5. Available from: http://www.ncbi.nlm.nih.gov/pubmed/22766441




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