Article
Screening program for Waardenburg syndrome in Colombia: clinical definition and phenotypic variability.
American journal of medical genetics. Part A - 15 Apr 2008
Tamayo Marta L, Gelvez Nancy, Rodriguez Marcela, Florez Silvia, Varon Clara, Medina David, Bernal Jaime E
Abstract excerpt
A screening program to detect Waardenburg syndrome (WS) conducted between 2002 and 2005, among 1,763 deaf individuals throughout Columbia identified 95 affected individuals belonging to 95 families, giving a frequency of 5.38% of WS among the institutionalized deaf population. We confirmed the clinical diagnosis of WS in the 95 propositi and, through the family evaluation, we also identified 45...
Topics
- Child
- Colombia
- Developmental Disabilities
- Eye Abnormalities
- Female
- Hearing Loss, Sensorineural
- Humans
- Male
- Mass Screening
- Phenotype
- Skin Pigmentation