Síndrome de Waardenburg. Variabilidad en una familia en Sandino, Pinar del Río, Cuba / Waardenburg syndrome: variability in a Sandino family

Authors

  • Fidel Castro Pérez Especialista de Segundo Grado en Otorrinolaringología. Profesor Auxiliar. Policlínico Dr. Ernesto Guevara de la Serna.
  • Yenia Ledesma Vega Especialista de Primer Grado en Genética Médica. Policlínico Dr. Ernesto Guevara de la Serna.
  • Carlos Ivis Otaño Placencia Especialista de Primer Grado en Medicina General Integral. Máster en Asesoramiento Genético. Policlínico Juan Navarro.
  • Pedro Antonio Ramírez Sosa Especialista de primer Grado en Medicina General Integral. Máster en Asesoramiento Genético. Instructor. Policlínico Dr. Ernesto Guevara de la Serna.
  • Milagros Ramos Cruz Especialista de Primer Grado en Otorrinolaringología. Profesor Auxiliar. Hospital Pediátrico Provincial Pepe Portilla.

Abstract

El síndrome de Waardenburg es una enfermedad infrecuente, autosómica y dominante que cursa con cierto grado de discapacidad cuando aparece la hipoacusia neurosensorial, sin embargo, se ha detectado en Sandino, Pinar del Río, Cuba, una familia con 26 individuos vivos portadores del síndrome. Se describe por primera vez el estudio general de la familia desde el primer portador, y se demuestra la variabilidad individual en los portadores.

DeCS: SÍNDROME DE WAARDENBURG/genética; SÍNDROME DE WAARDENBURG/fisiopatología; IRIS; SORDERA; Pigmentación.

ABSTRACT

Waardenburg Syndrome (WS) is a non-frequent autosomal dominant disease, showing a certain degree of disability when neurosensitive hypoacusia appears; however, in Sandino, Pinar de Río, Cuba a family, from whom 26 alive relatives show WS. The general study of this family from the first ill relative, and the individual variability is showed.

DeCS: Waardenburg syndrome/genetics; Waardenburg, syndrome/physiopathology; iris, deafness, pigmentation.

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References

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Published

2011-07-01

How to Cite

1.
Castro Pérez F, Ledesma Vega Y, Otaño Placencia CI, Ramírez Sosa PA, Ramos Cruz M. Síndrome de Waardenburg. Variabilidad en una familia en Sandino, Pinar del Río, Cuba / Waardenburg syndrome: variability in a Sandino family. Rev Ciencias Médicas [Internet]. 2011 Jul. 1 [cited 2025 Aug. 30];15(2):204-1. Available from: https://revcmpinar.sld.cu/index.php/publicaciones/article/view/771

Issue

Vol. 15 No. 2 (2011)

Section

ORIGINAL ARTICLES

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