Syndrome in Question

Abstract

AbstractWaardenburg 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