Waardenburg syndrome in childhood deafnessin Cameroon


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dc.contributor.author Noubiap, J N
dc.contributor.author Djomou, F
dc.contributor.author Njock, R
dc.contributor.author Toure, G B
dc.contributor.author Wonkam, A
dc.date.accessioned 2016-05-17T09:55:59Z
dc.date.available 2016-05-17T09:55:59Z
dc.date.issued 2014
dc.identifier.citation Noubiap, J. N., Djomou, F., Njock, R., Toure, G. B., & Wonkam, A. (2014). Waardenburg syndrome in childhood deafness in Cameroon. South African Journal of Child Health, 8(1), 3-5. en_ZA
dc.identifier.issn 1994-3032 en_ZA
dc.identifier.uri http://hdl.handle.net/11427/19694
dc.identifier.uri http://www.sajch.org.za/index.php/SAJCH/article/view/672
dc.description.abstract Background: Waardenburg syndrome (WS) is a rare hereditary disorder essentially characterised by deafness and pigment disorders of the eyes, hair and skin. Method: Between October 2010 and December 2011, we identified six patients with WS during an aetiological survey of 582 deaf participants recruited in schools for the deaf and ear, nose and throat outpatient clinics in seven of the ten regions of Cameroon. Two classic characteristics of WS were used as diagnostic criteria: deafness and pigmentation abnormalities (heterochromia iridis, white forelock and depigmented skin patches). In addition, to identify dystopia canthorum, a sign of WS type I, we calculated the W-index. Results: WS comprised 1% of the whole sample, 7% of the genetic cases, and 50% of the genetic syndromic cases. All patients with WS had severe to profound congenital sensorineural and symmetrical hearing loss with flat audiograms. They also had pigment disorders of the eyes and the skin. In the absence of dystopia canthorum, they were all classified as having WS type II. The pedigree was suggestive of autosomal dominant inheritance in two cases, and the four others seemed to be de novo cases. Conclusion. The results suggest that WS type II is the most common syndromic form of hearing loss among Cameroonians. This has implications for retrospective genetic counselling and hearing tests for earlier management in affected families. en_ZA
dc.language eng en_ZA
dc.publisher Health and Medical Publishing Group en_ZA
dc.rights Creative Commons Attribution-NonCommercial 4.0 International (CC BY-NC 4.0) *
dc.rights.uri http://creativecommons.org/licenses/by-nc/4.0/ en_ZA
dc.source South African Journal of Child Health en_ZA
dc.source.uri http://www.sajch.org.za/index.php/SAJCH
dc.subject.other Waardenburg syndrome
dc.subject.other Cameroon
dc.subject.other Africa
dc.subject.other deafness
dc.subject.other genetic counselling
dc.title Waardenburg syndrome in childhood deafnessin Cameroon en_ZA
dc.type Journal Article en_ZA
dc.date.updated 2016-05-17T09:46:23Z
uct.type.publication Research en_ZA
uct.type.resource Article en_ZA
dc.publisher.institution University of Cape Town
dc.publisher.faculty Faculty of Health Sciences en_ZA
dc.publisher.department Division of Human Genetics en_ZA
uct.type.filetype Text
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Creative Commons Attribution-NonCommercial 4.0 International (CC BY-NC 4.0) Except where otherwise noted, this item's license is described as Creative Commons Attribution-NonCommercial 4.0 International (CC BY-NC 4.0)