title: Syndrome in Question.
abstract: Waardenburg syndrome is an inherited disease characterized by sensorineural hearing loss, pigmentation changes and minor facial malformations. It has four clinical variants. We report the case of a girl who, like her mother, was affected by this syndrome. The diagnosis was made after detection and treatment of deafness.
authors.affiliation: Federal University of Rio Grande do Sul, Porto Alegre, RS, BR.
authors.forename: Juliano
authors.initials: J
authors.lastname: Peruzzo
authors.affiliation: Federal University of Rio Grande do Sul, Porto Alegre, RS, BR.
authors.forename: Fernanda Luca
authors.initials: FL
authors.lastname: Nazar
authors.affiliation: Private Clinic, Porto Alegre, RS, BR.
authors.forename: Mariana Quirino
authors.initials: MQ
authors.lastname: Tubone
authors.affiliation: Federal University of Rio Grande do Sul, Porto Alegre, RS, BR.
authors.forename: Gabriela Fortes
authors.initials: GF
authors.lastname: Escobar
authors.affiliation: Federal University of Rio Grande do Sul, Porto Alegre, RS, BR.
authors.forename: Tania Ferreira
authors.initials: TF
authors.lastname: Cestari
mesh_terms: D002648:Child; D003638:Deafness / Q000175:diagnosis / Q000503:physiopathology; D042241:Early Diagnosis; D005260:Female; D006801:Humans; D010641:Phenotype; D014849:Waardenburg Syndrome / Q000175:diagnosis* / Q000503:physiopathology