Resumen

SANTANA HERNANDEZ, Elayne Esther  y  TAMAYO CHANG, Victor Jesús. Syndrome Waardenburg. Presentation of an affected family. Gac Méd Espirit [online]. 2015, vol.17, n.3, pp. 181-186. ISSN 1608-8921.

Background: The syndrome of Waardenburg is a genetic illness characterized by anomalies of the pigmentation and neurosensory deafness. Several clinical types are described, with great genetic heterogeneity; most of the published cases present a pattern of autos’omico dominant inheritance, although other inheritance forms are described Objective: To show a representative family with several affected members of variable expression. Case presentation: A family is presented with seven sick persons where the hypo acoustic of variable grade prevail the same as the alterations of the pigmentation of the skin, the hair and the iris. The appropriate diagnose and genetic advice, together to the opportune intervention with the cochlear implants has allowed the adapted incorporation in the normal teaching to these sick persons Conclusions: It is important the opportune diagnosis to carry out actions with the purpose of improving the quality of life and the correct social incorporation of these patients.

Palabras clave : Síndrome de Waardenburg; genética; familia.

        · resumen en Español     · texto en Español     · Español ( pdf )