Pendreds syndrome is an autosomal recessive disorder first described in 1896 and characterized by the triad of deafness, goiter, and a partial. Pdf an interesting case of pendred syndrome researchgate. Pendred syndrome ps, associating sensorineural hearing loss, inner ear bone malformation and thyroid goiter, is the. As transformacoes fisicas no ouvido interno ocorrem em 85 por cento dos casos. Aug 19, 2018 glanzmann thrombasthenia gt is a rare autosomal recessive bleeding syndrome affecting the megakaryocyte lineage and characterized by lack of platelet. Pendred syndrome in a large consanguineous brazilian family. Las personas con tipo ii tienen sordera moderada a severa y equilibrio normal. 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.
Pendred syndrome is a genetic disorder leading to congenital bilateral both sides. Pendred syndrome genetic and rare diseases information. If these data are representative, pendred syndrome is a common cause of congenital hearing impairment. In other cases, hearing loss does not develop until later in infancy or. Pendreds syndrome ps is an autosomal recessive disorder characterized by congenital sensorineural hearing loss and progressive enlarging goiter. Pendred syndrome is a genetic disorder that causes early. To present a clinical case of pendred syndrome, a rare pathology in children that includes congenital deafness and goiter. Pdf on jun 4, 2010, ali saneimoghaddam mrcs research fellow and others published an interesting case of pendred syndrome find, read and cite all the research you need on researchgate.
Pendred syndrome is a genetic disorder leading to congenital bilateral both sides sensorineural hearing loss and goitre with euthyroid or mild hypothyroidism decreased thyroid gland function. Glanzmann thrombasthenia is a bleeding disorder that is characterized by prolonged or. Pendreds syndrome fulltext european neurology 2007, vol. In many cases, significant hearing loss is present at birth. The perchlorate discharge test with 123 i for the diagnosis of the pendred syndrome in children. It occurs when the immune system mistakenly attacks and destroys healthy body tissue. A perda auditiva esta associada a anormalidades do ouvido interno, desde a dilatacao isolada do aqueduto vestibular dav ate uma tipica displasia coclear. When pds and dfnb4 are considered part of the same disease spectrum, prevalence rates are very high pathogenic variants in slc26a4 are the second most frequent cause of nonsyndromic hearing loss hilgert et al 2009. Pendred syndrome is a rare genetic disease that causes a. Pdf pendred syndrome is an autosomal recessive condition classically characterized by deafness and goitre.
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