%0 Journal Article
%T Waardenburg syndrome: A rare case
%A Ajab Dhabarde
%A Roshani Ramtake
%A Shivlal M. Rawlani
%A Sudhir S. Rawlani
%J Archive of "Oman Journal of Ophthalmology".
%D 2018
%R 10.4103/ojo.OJO_51_2014
%X 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
%K Hearing loss
%K heterochromia
%K hypopigmentation
%K Waardenburg syndrome
%K white forelock
%U https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5991067/