Waardenburg syndrome: A case report [Waardenburg sendromu: Bir vaka sunumu]
Küçük Resim Yok
Tarih
2010
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Erişim Hakkı
info:eu-repo/semantics/closedAccess
Özet
Introduction: Auditory-pigmentary syndromes are a group of diseases that effect the skin, hair, eyes and the cochlea. Waardenburg syndrome is one of the members of these autosomal dominantly inherited diseases. Waardenburg syndrome is characterized by white forelock, congenital sensorineural hearing loss, hypopigmented skin and anomalies of the intraocular tissues. How ever all these diagnostic features may not be seen in all patient. In addition, there are four subtypes of the syndrome in each of which the genetic and clinical findings are different. Case Report: In this article, a-3-year old boy with Waardenburg syndrome Type 1 was described. Also, in some of the family members the same disease was diagnosed. Conclusion: Waardenburg syndrome should be evaluated in the patients with congenital sensorineural hearing loss accompanied with the clinical findings. © The Journal of Current Pediatrics, published by Galenos Publishing.
Açıklama
Anahtar Kelimeler
Child, Congenital sensorineural hearing loss, Waardenburg syndrome, White forelock
Kaynak
Guncel Pediatri
WoS Q Değeri
Scopus Q Değeri
Q4
Cilt
8
Sayı
3
