Characterization of pigmentary disorders and hearing loss in cases with Waardenburg syndrome
Keywords:
WAARDENBURG SYNDROME/ Epidemiology, PIGMENTATION DISORDERS, HEARING LOSS.Abstract
Introduction: pigmentation disorders and hypoacusis are two of the main symptoms of Waardenburg syndrome. It has been detected in the Sandino municipality in Pinar del Río a family with 26 living individuals carriers of this genetic entity, some of which present pigmentation disorders and hypoacusis.
Objective: to characterize pigmentation disorders and hypoacusis in people affected by Waardenburg syndrome.
Methods: a longitudinal, prospective and descriptive research was developed in the Sandino municipality from January 2009 to January 2017, using the clinical epidemiological method. The population under study were 221 people from a family in the Sandino municipality, the sample was defined by the 26 people diagnosed with Waardenburg Syndrome. Descriptive statistics were used to analyze the results.
Results: the 16 people with hypoacusis presented hair pigmentation disorders, and to a lesser extent, skin pigmentation disorders.
Conclusions: the research incorporates important aspects of hypoacusis associated to pigmentation disorders in the skin and hair in cases affected by Waardenburg syndrome not previously described, which offers the possibility of showing them in a novel way to enrich and update the knowledge of this entity.
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