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Multidisciplinary, multicenter consensus for the care of patients affected with Sturge–Weber syndrome

Abstract Background Sturge–Weber Syndrome (SWS) is a rare, sporadic neurocutaneous disorder affecting the skin, brain, and eyes, due to somatic activating mutations in GNAQ or, less commonly, GNA11 gene. It is characterized by at least two of the following features: a facial capillary malformation,...

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Автори: May El Hachem, Andrea Diociaiuti, Angela Galeotti, Francesca Grussu, Elena Gusson, Alessandro Ferretti, Carlo Efisio Marras, Davide Vecchio, Simona Cappelletti, Mariasavina Severino, Carlo Gandolfo, Simone Reali, Rosa Longo, Carmen D’Amore, Lodovica Gariazzo, Federica Marraffa, Marta Luisa Ciofi Degli Atti, Maria Margherita Mancardi, and the Sturge-Weber Syndrome Multidisciplinary Group
Формат: Artigo
Мова:Inglês
Опубліковано: BMC 2025-01-01
Серія:Orphanet Journal of Rare Diseases
Предмети:
Sturge–Weber syndrome
Capillary malformation
Pulsed dye laser
Glaucoma
Epilepsy
Intellectual disability
Онлайн доступ:https://doi.org/10.1186/s13023-024-03527-w
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