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. Clin Ter 2012; 163(2):e85-94
Waardenburg Syndrome: a review of literature and case reports / Salvatore, Serena; C., Carnevale; R., Infussi; Arrico, Loredana; Mafrici, Marco; A. M., Plateroti; Vingolo, Enzo Maria. - In: LA CLINICA TERAPEUTICA. - ISSN 0009-9074. - ELETTRONICO. - 163:2(2012), pp. E85-E94.
Waardenburg Syndrome: a review of literature and case reports
SALVATORE, SERENA;ARRICO, Loredana;MAFRICI, MARCO;VINGOLO, Enzo Maria
2012
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. Clin Ter 2012; 163(2):e85-94I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
