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Screening program for Waardenburg syndrome in Colombia: Clinical definition and phenotypic variability by Marta L. Tamayo; Nancy Gelvez; Marcela Rodriguez; Silvia Florez; Clara Varon; David Medina; Jaime E. Bernal is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.

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## Abstract 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 non‐institutionalized affected relatives. Audiologic, ophthalmologic, and genetic studies were performed to confirm the diagnosis. Following the classification of the WS consortium, based on the Waardenburg Index (WI), to define the type of WS. We classified 62.1% of the propositi as WS2 and 37.9% as WS1. We present here the results of the study of clinical manifestations, analyzing the presence, severity, and symmetry of clinical findings among this affected population. Overall, among the 95 propositi, in addition to sensorineural deafness in all, the most frequent features were broad nasal root (58.9%), a first degree relative affected (37.9%), heterochromia irides (36.8%), skin hypopigmentation (31.6%), white forelock (28.0%), intense blue iris (27.4%), synophrys (12.6%), prem

Who reads Screening program for Waardenburg syndrome in Colombia: Clinical definition and phenotypic variability?

Author

Marta L. Tamayo; Nancy Gelvez; Marcela Rodriguez; Silvia Florez; Clara Varon; David Medina; Jaime E. Bernal

Publisher

John Wiley and Sons; Wiley (John Wiley & Sons); Wiley-Liss Inc; Wiley (ISSN 1552-4825)

Published

2008

Language

EN

Field

Biochemistry, Genetics and Molecular Biology (Life Sciences)