Pendred syndrome in a large consanguineous brazilian. A perda auditiva esta associada a anormalidades do ouvido interno, desde a dilatacao isolada do aqueduto vestibular dav ate uma tipica displasia coclear. There is no specific treatment, other than supportive measures for the hearing loss and thyroid hormone supplementation in case of hypothyroidism. Pendred syndrome in a large consanguineous brazilian family.
The coding region of the pds gene exons 221, including. A perda auditiva sindromica caracterizase por manifestacoes adicionais, tais como. Es una sordera genetica sindromica clinicamente variable caracterizada por hipoacusia neurosensorial. En realidad, pueden dar resultados falsos negativos o positivos. Pdf the clinical presentation of a pendred syndrome patient is reported, as well as the clinical, imagiological and analytical study that.
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. Yubriangel reyes, mariela paoli, yajaira briceno, yajaira zerpa. The thyroid disease typically develops around puberty and is associated with a mild. Clinical and molecular characteristics of pendred syndrome em. Genetic deafness at the dfnb4 locus is part of the phenotypic spectrum that. Allanherndondudley syndrome is a rare xlinked inherited disorder of brain development that causes both moderate to severe intellectual disability and problems with speech and movement allanherndondudley syndrome, which is named eponymously for william allan, florence c. Pendred syndrome is an autosomal recessive disorder characterized by congenital deafness and thyroid goiter.
Department of health and human services national institutes of health. Vaughan pendred 18691945 unita di pediatria genetica e medicina fetale di londra dipartimento di genetica univ. As transformacoes fisicas no ouvido interno ocorrem em 85 por cento dos casos. The full text of this article is available in pdf format.
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