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Case Reports
. 2018 May-Aug;11(2):158-160.
doi: 10.4103/ojo.OJO_51_2014.

Waardenburg syndrome: A rare case

Shivlal M Rawlani  1 , Roshani Ramtake  2 , Ajab Dhabarde  2 , Sudhir S Rawlani  3
Affiliations
Case Reports

Waardenburg syndrome: A rare case

Shivlal M Rawlani et al. Oman J Ophthalmol. 2018 May-Aug.

Abstract

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.

Keywords: Hearing loss; Waardenburg syndrome; heterochromia; hypopigmentation; white forelock.

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Conflict of interest statement

There are no conflicts of interest.

Figures

Figure 1
Figure 1
Hypoplastic blue iris in the left and right eye and sectoral heterochromia in the right eye
Figure 2
Figure 2
Streaks of white hair in midline area, and hypopigmented patch on the left cheek region
Figure 3
Figure 3
Hypopigmented patch on upper abdomen
See this image and copyright information in PMC

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