Waardenburg syndrome in childhood deafnessin Cameroon
| 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.date.updated | 2016-05-17T09:46:23Z | |
| 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.identifier.apacitation | Noubiap, J. N., Djomou, F., Njock, R., Toure, G. B., & Wonkam, A. (2014). Waardenburg syndrome in childhood deafnessin Cameroon. <i>South African Journal of Child Health</i>, http://hdl.handle.net/11427/19694 | en_ZA |
| dc.identifier.chicagocitation | Noubiap, J N, F Djomou, R Njock, G B Toure, and A Wonkam "Waardenburg syndrome in childhood deafnessin Cameroon." <i>South African Journal of Child Health</i> (2014) http://hdl.handle.net/11427/19694 | en_ZA |
| 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.ris | TY - Journal Article AU - Noubiap, J N AU - Djomou, F AU - Njock, R AU - Toure, G B AU - Wonkam, A AB - 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. DA - 2014 DB - OpenUCT DP - University of Cape Town J1 - South African Journal of Child Health LK - https://open.uct.ac.za PB - University of Cape Town PY - 2014 SM - 1994-3032 T1 - Waardenburg syndrome in childhood deafnessin Cameroon TI - Waardenburg syndrome in childhood deafnessin Cameroon UR - http://hdl.handle.net/11427/19694 ER - | 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.identifier.vancouvercitation | Noubiap JN, Djomou F, Njock R, Toure GB, Wonkam A. Waardenburg syndrome in childhood deafnessin Cameroon. South African Journal of Child Health. 2014; http://hdl.handle.net/11427/19694. | en_ZA |
| dc.language | eng | en_ZA |
| dc.publisher | Health and Medical Publishing Group | en_ZA |
| dc.publisher.department | Division of Human Genetics | en_ZA |
| dc.publisher.faculty | Faculty of Health Sciences | en_ZA |
| dc.publisher.institution | University of Cape Town | |
| 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 |
| uct.type.filetype | Text | |
| uct.type.filetype | Image | |
| uct.type.publication | Research | en_ZA |
| uct.type.resource | Article | en_ZA |