全部 标题 作者
关键词 摘要

OALib Journal期刊
ISSN: 2333-9721
费用:99美元

查看量下载量
321

相关文章

更多...
Biomirror  2011 

Waardenburg Syndrome Type I – A Concise Diagnostic Study

Keywords: Waardenburg syndrome type I , PAX3 gene , Heterochromia iridis , White forelock , Dystopia canthorum

Full-Text   Cite this paper   Add to My Lib

Abstract:

Waardenburg syndrome (WS) is an uncommon autosomal geneticdisorder of neural crest cell development. It accounts for 2% ofcongenital deafness and shows high clinical variability and geneticheterogeneity. Based on clinical presentations, four types of WS arerecognized. A careful clinical evaluation is required to differentiatevarious types of WS and other associated auditory-pigmentarysyndromes. We studied a case of Waardenburg syndrome type I (WS1)which is a new mutation, a sporadic case with no positive familyhistory of WS. This case presented with total heterochromia iridis,dystopia canthorum and broad nasal root. Waardenburg syndrome typeI is an autosomal dominant disorder caused due to mutation of PAX3gene on chromosome 2q37.

Full-Text

  
  
  

Contact Us

service@oalib.com

QQ:3279437679

WhatsApp +8615387084133