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Sindrome di Waardenburg - Descrizione di un caso clinico
Waardenburg syndrome: a case report
Valentina Carrato1, Alessandro Spinelli1, Irene Bruno2
1Università di Trieste
2IRCCS Materno-Infantile "Burlo Garofolo", Trieste
Maggio 2017
Abstract
Waardenburg syndrome - type 1 (WS1) is an autosomal dominant disease clinically and genetically heterogeneous. It is characterized by non-progressive sensorineural hearing loss of variable degree and anomalous pigmentation of the eyes and the skin caused by melanocytes absence. The syndrome is caused by mutations in genes that regulate the me- lanocytes differentiation from the neural crest during embriogenetic development. This work describes the syndrome by reporting the characteristics of two newly diagnosed cases within the same family.
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