Waardenburg syndrome: A rare case

• Main Authors: Shivlal M Rawlani, Roshani Ramtake, Ajab Dhabarde, Sudhir S Rawlani
• Format: Article
• Language: English
• Published: Wolters Kluwer Medknow Publications 2018-01-01
• Series: Oman Journal of Ophthalmology
• Subjects: Hearing loss; heterochromia; hypopigmentation; Waardenburg syndrome; white forelock
• Online Access: http://www.ojoonline.org/article.asp?issn=0974-620X;year=2018;volume=11;issue=2;spage=158;epage=160;aulast=Rawlani

Waardenburg Syndrome is a rare disorder of neural crest cell development. It is genetically inherited. Varying in prevalence from 1:42000 to 1:50,000, it compromises approximately 2-5% of congenital deaf children. The syndrome is not expressed in its complete form, in about 20% cases, which adds for its heterogenisity . Even among people affected in the same family,the features do vary. Unilateral heterochromia that manifests as lighter pigmentation of one iris is associated with Waardenburg syndrome and Parry-Romberg syndrome and less commonly with Hirschsprung disease. A case of ten yrs. old boy with a typical facial profile and hearing loss is reported.