Pendred syndrome ps is an autosomal recessive disorder. Pendred syndrome is an autosomal recessive disorder characterized by congenital deafness and thyroid goiter. Targeted disruption of mouse pds provides insight about the innerear defects encountered in pendred syndrome. 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.
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. Pendred syndrome ps mim 274600 accounts for up to 10% of hereditary. Pdf following the positional cloning of pds, the gene mutated in the deafness goitre. As transformacoes fisicas no ouvido interno ocorrem em 85 por cento dos casos. A perda auditiva sindromica caracterizase por manifestacoes adicionais, tais como. The outcome of testing varies by ethnicity and phenotype. Pdf targeted disruption of mouse pds provides insight about the. En realidad, pueden dar resultados falsos negativos o positivos. The pendreds syndrome gene is essential for crystal nucleation.
Targeted disruption of mouse pds provides insight about the inner. The thyroid disease typically develops around puberty and is associated with a mild. Transcriptional control of slc26a4 is involved in pendred. Es una sordera genetica sindromica clinicamente variable caracterizada por hipoacusia neurosensorial. 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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