Acessibilidade / Reportar erro

Syndrome in Question* * Study conducted at the Hospital de Clínicas de Porto Alegre - Federal University of Rio Grande do Sul (UFRGS) - Porto Alegre (RS), Brazil.

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.

Keywords:
Skin diseases, genetic; Genetic diseases, inborn; Deafness; Waardenburg syndrome

Sociedade Brasileira de Dermatologia Av. Rio Branco, 39 18. and., 20090-003 Rio de Janeiro RJ, Tel./Fax: +55 21 2253-6747 - Rio de Janeiro - RJ - Brazil
E-mail: revista@sbd.org.br