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Biomirror 2011
Waardenburg Syndrome Type I – A Concise Diagnostic StudyKeywords: Waardenburg syndrome type I , PAX3 gene , Heterochromia iridis , White forelock , Dystopia canthorum Abstract: Waardenburg syndrome (WS) is an uncommon autosomal geneticdisorder of neural crest cell development. It accounts for 2% ofcongenital deafness and shows high clinical variability and geneticheterogeneity. Based on clinical presentations, four types of WS arerecognized. A careful clinical evaluation is required to differentiatevarious types of WS and other associated auditory-pigmentarysyndromes. We studied a case of Waardenburg syndrome type I (WS1)which is a new mutation, a sporadic case with no positive familyhistory of WS. This case presented with total heterochromia iridis,dystopia canthorum and broad nasal root. Waardenburg syndrome typeI is an autosomal dominant disorder caused due to mutation of PAX3gene on chromosome 2q37.
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