Waardenburg syndrome: case series

Sheenu Sachdeva; Varunkumar Jayakumar; Shubhlaxmi Atmaram Jaiswal

doi:10.18203/issn.2454-5929.ijohns20211191

Authors

Sheenu Sachdeva Department of Otorhinolaryngology, Dr. V. M. G. M. C Solapur, Maharashtra, India
Varunkumar Jayakumar Department of Otorhinolaryngology, Dr. V. M. G. M. C Solapur, Maharashtra, India
Shubhlaxmi Atmaram Jaiswal Department of Otorhinolaryngology, Dr. V. M. G. M. C Solapur, Maharashtra, India

DOI:

https://doi.org/10.18203/issn.2454-5929.ijohns20211191

Keywords:

Autosomal dominant deafness, Heterochromia, Pigmentation anomalies, Waardenburg syndrome

Abstract

Waardenburg syndrome is a rare genetic disorder of neural crest cell development with incidence of 1:42000 to 1:50,000. The syndrome is not completely expressed and hence adds to its hetergenecity with symptoms varying from one type of syndrome to another and from one patient to another. Unilateral heterochromia that manifests in some people is associated with Waardenburg syndrome and Parry-Romberg syndrome. This is a case series of four cases with features of Waardenburg syndrome with variable presentations and familial inheritance.

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Author Biography

Varunkumar Jayakumar, Department of Otorhinolaryngology, Dr. V. M. G. M. C Solapur, Maharashtra, India

Junior Resident Department of ENT

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