Fırat Üniversitesi Sağlık Bilimleri Tıp Dergisi |
2004, Cilt 18, Sayı 4, Sayfa(lar) 251-253 |
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A Case with Waardenburg Syndrome |
Erdal TAŞKIN, Mehmet KILIÇ, Mustafa AYDIN, Sabahattin ERTUĞRUL, A. Denizmen AYGÜN |
Fırat Üniversitesi Tıp Fakültesi Çocuk Sağlığı ve Hastalıkları Anabilim Dalı Elazığ – TÜRKİYE |
Keywords: Waardenburg syndrome, congenital sensorineural hearing loss, dystopia canthorum |
The syndrome described by Waardenburg in 1951 with autosomal inheritance characterized by the association of craniofacial dysmorphism, pigmentation defects, and congenital sensorineural hearing loss. A case with congenital deafness admitted to Pediatric Emergency Unit because of drinking thinner and diagnosed as Waardenburg syndrome type 1 is presented.
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[ Turkish ]
[ Tam Metin ]
[ PDF ]
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