Maggio 2017 - Volume XXXVI - numero 5
Pagine elettroniche
1Università di Trieste
2IRCCS Materno-Infantile "Burlo Garofolo", Trieste
Indirizzo per corrispondenza: valentina.carrato@gmail.com
Key words: Waardenburg syndrome, Anomalous pigmentation, Hearing loss, Melanocytes absence, Genetic disease
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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Pagine elettroniche
Clinica Pediatrica, Azienda Ospedaliera Universitaria Integrata, Verona
Indirizzo per corrispondenza: tebonasia@virgilio.it
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