Waardenburg Syndrome; A case series
DOI:
https://doi.org/10.66344/jpad.27.4.2017.1158Keywords:
Waardenberg syndrome, piebaldism, dystopia canthorum, SynophrysAbstract
Waardenburg syndrome is a rare autosomal disorder with heterogeneous manifestations including sensorineural deafness, piebaldism, heterochromic irides, synophrys and dystopia canthorum. We report this case for its rarity and presence of freckles, a finding which has not been reported in association with WS in this part of world so far.References
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Wildhart G, Zirn B, Graui-Neumann LM et al. Spectrum of novel mutations found in Waardenburg syndrome types 1 and 2: implications for molecular genetic diagnostics. BMJopen 2013;3:e001917.doi:10.1136.
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