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Revista de Ciencias Médicas de Pinar del Río

versión On-line ISSN 1561-3194


CASTRO PEREZ, Fidel; SANABRIA NEGRIN, José Guillermo  y  MENENDEZ GARCIA, Reinaldo. Waardenburg's syndrome: clinical classification of a family. Rev Ciencias Médicas [online]. 2012, vol.16, n.3, pp.161-171. ISSN 1561-3194.

Background: Waardenburg Syndrome (SW) is a rare inherited disorder characterized by varying degrees of disability, when sensorineural hearing loss appear and its clinical chart is not definitely complete. Objective: to describe the clinical characteristics of a family suffering from this entity and the variables found. Material and Method: observational, cross-sectional and descriptive case studies. An automated database was created, using the variables of clinical signs, including the classification of hypoacusis. Measures of frequency were employed: absolute and relative percentages as well as X2 test with 95% of confidence. Results: out of the classical signs 100% showed dystopia canthorum, the rest appeared with variability. Observing signs not previously described, among them, a marked straight-nasal dorsum (65,4%). Hallux valgus was detected in 4 of the subjects; which allowed classifying them into: 19 of Type-I and the rest (7) in the sub-variant-1 of Type-III. Conclusions: the osseous alterations found in subjects suffering from SW allowed classifying them as sub-variant III-1 carriers, not previously described.

Palabras clave : Waardenburg's syndrome [genetics]; Waardenburg's syndrome [classification].

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