Literature DB >> 23121842

Waardenburg syndrome--a case report.

Yuvika Bansal1, Parul Jain, Gaurav Goyal, Malvika Singh, Chittranjan Mishra.   

Abstract

Waardenburg syndrome is a rare genetic disorder characterized by varying degree of deafness associated with pigmentary anomaly and defects of neural crest cell derived structures. Four subtypes (I-IV) with variable penetrance and gene expression of different clinical features have been described. We report a patient showing constellation of complete heterochromia, dystopia canthorum, white forelock, and synophrys. Other affected family relatives with heterochromia have been depicted in pedigree.
Copyright © 2012 British Contact Lens Association. Published by Elsevier Ltd. All rights reserved.

Entities:  

Mesh:

Year:  2012        PMID: 23121842     DOI: 10.1016/j.clae.2012.10.083

Source DB:  PubMed          Journal:  Cont Lens Anterior Eye        ISSN: 1367-0484            Impact factor:   3.077


  2 in total

1.  Waardenburg-Shah Syndrome: a rare case in an Indian child.

Authors:  Rajesh Pattebahadur; Shipra Singhi; Prafulla Kumar Maharana
Journal:  BMJ Case Rep       Date:  2016-09-30

2.  The microphthalmia-associated transcription factor (Mitf) gene and its role in regulating eye function.

Authors:  Andrea García-Llorca; Snaefridur Gudmundsdottir Aspelund; Margret Helga Ogmundsdottir; Eiríkur Steingrimsson; Thor Eysteinsson
Journal:  Sci Rep       Date:  2019-10-28       Impact factor: 4.379

  2 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.