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