Transcriptional control of slc26a4 is involved in pendred. Preschool female 5 years and 4 months of age, whose mother refers disease of 3 months of evolution characterized by progressive increase in volume of the anterior neck, without redness, heat, or pain. The outcome of testing varies by ethnicity and phenotype. Pdf targeted disruption of mouse pds provides insight about the. Pendred syndrome ps is an autosomal recessive disorder. The pendreds syndrome gene is essential for crystal nucleation. A perda auditiva sindromica caracterizase por manifestacoes adicionais, tais como. Pendred syndrome is an autosomal recessive disorder characterized by congenital deafness and thyroid goiter. Pdf following the positional cloning of pds, the gene mutated in the deafness goitre. Pendred syndrome ps mim 274600 accounts for up to 10% of hereditary.
Yubriangel reyes, mariela paoli, yajaira briceno, yajaira zerpa. Es una sordera genetica sindromica clinicamente variable caracterizada por hipoacusia neurosensorial. To present a clinical case of pendred syndrome, a rare pathology in children that includes congenital deafness and goiter. Las personas con tipo ii tienen sordera moderada a severa y equilibrio normal. A read is counted each time someone views a publication summary such as the title, abstract, and list of authors, clicks on a figure, or views or downloads the fulltext. Targeted disruption of mouse pds provides insight about the innerear defects encountered in pendred syndrome. En realidad, pueden dar resultados falsos negativos o positivos. The thyroid disease typically develops around puberty and is associated with a mild. Targeted disruption of mouse pds provides insight about the inner. Less commonly, a full mondini malformation is present 4,6,9 where the apical two turns of the cochlea are merged into a common cavity.
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