title: [Waardenburg Syndrome: a review of literature and case reports].
abstract: Waadernburg syndrome (WS) is an autosomal dominant disease clinically and genetically heterogeneous. It is characterized by non-progressive sensorineuronal hearing loss of variable degree and anomalous pigmentation (of the eyes, skin and stria vascularis of cochlear duct) caused by melanocytes absence. The syndrome is caused by mutations in genes that regulate the melanocytes differentiation from the neural crest during embriogenetic development. This study will review the literature on WS and explain more in detail the ocular findings in WS, while reporting new findings on two newly diagnosed cases.
authors.affiliation: Dipartimento di Science Oftalmologiche, Universita' La Sapienza, Polo Pontino, Italia. serena.sal@hotmail.it
authors.forename: S
authors.initials: S
authors.lastname: Salvatore
authors.forename: C
authors.initials: C
authors.lastname: Carnevale
authors.forename: R
authors.initials: R
authors.lastname: Infussi
authors.forename: L
authors.initials: L
authors.lastname: Arrico
authors.forename: M
authors.initials: M
authors.lastname: Mafrici
authors.forename: A M
authors.initials: AM
authors.lastname: Plateroti
authors.forename: E M
authors.initials: EM
authors.lastname: Vingolo
mesh_terms: D000328:Adult; D002648:Child; D005260:Female; D006801:Humans; D008297:Male; D014849:Waardenburg Syndrome / Q000145:classification / Q000175:diagnosis