Waardenburg's syndrome: clinical classification of a family

Authors

  • Fidel Castro Pérez Especialista de Segundo Grado en Otorrinolaringología. Master en Atención integral al niño. Profesor Auxiliar. Investigador Agregado. Policlínico Dr. Ernesto Guevara de la Serna. Sandino.
  • José Guillermo Sanabria Negrín Especialista de Segundo Grado en Histología. Dr. en Ciencias Biológicas. Profesor Auxiliar. Investigador Auxiliar. Universidad de Ciencias Médicas de Pinar del Río.
  • Reinaldo Menéndez García Especialista de Segundo Grado en Genética. Profesor Auxiliar. Centro provincial de Genética. Pinar del Río.

Keywords:

Waardenburg's syndrome/genetics/classification.

Abstract

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.

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References

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Published

2012-07-02

How to Cite

1.
Castro Pérez F, Sanabria Negrín JG, Menéndez García R. Waardenburg’s syndrome: clinical classification of a family. Rev Ciencias Médicas [Internet]. 2012 Jul. 2 [cited 2025 Aug. 30];16(3):161-7. Available from: https://revcmpinar.sld.cu/index.php/publicaciones/article/view/937

Issue

Vol. 16 No. 3 (2012)

Section

ORIGINAL ARTICLES

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