Publication | Open Access
Waardenburg syndrome: A report of three cases
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2010
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Developmental AnomalyClinical FindingMendelian DisorderGenetic DisorderPathologyAuditory-pigmentary SyndromesCase SeriesWaardenburg SyndromeDermatologyNeuropathologyMedicineNeurogenetics
Waardenburg syndrome (WS) is a rare autosomally inherited and genetically heterogeneous disorder of neural crest cell development with distinct cutaneous manifestations. Based on the clinical presentations, four subtypes of the disease are recognized. A careful clinical evaluation is required to differentiate various types of WS and other associated auditory-pigmentary syndromes. We describe a case series of WS to highlight the wide spectrum of manifestations of the syndrome including a rare association.