Syndrome de pendred
- Syndrome de pendred
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Syndrome de Pendred
Le syndrome de Pendred est une maladie génétique associant une surdité de transmission, des anomalies osseuses de l'oreille interne et un goitre thyroïdien secondaire à un trouble du transport de l'iode vers la cellule thyroïdienne.
La présence d'anomalie thyroïdienne est variable; le goitre n'est pas présent à la naissance mais se développe dans la puberté (40%) ou à l'age adulte (60%). La fonction vestibulaire est anormale dans la majorité des cas.
La maladie présente une extrême variabilité inter et intra familiale dans la gravité des symptômes et l'âge de leur apparition
Sources
- (en) Richard JH Smith, Guy Van Camp, Pendred Syndrome In GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1993-2005 [1]
Portail de la médecine
Catégorie : Maladie génétique
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Regardez d'autres dictionnaires:
Syndrome de Pendred — Référence MIM 274600 Transmission Récessive Chromosome 7q31 Gène SLC26A4 Mutation Ponctuelle … Wikipédia en Français
Pendred syndrome — Classification and external resources OMIM 274600 DiseasesDB 9771 GeneReviews … Wikipedia
Pendred syndrome — (PDS) is the hereditary association of congenital deafness (deafness at the time of birth) and goiter (enlargement of the thyroid gland in the front of the neck) due to a defect in the making of thyroid hormone. The features of Pendred syndrome… … Medical dictionary
Syndrome, Pendred — Pendred syndrome (PDS) is the hereditary association of congenital deafness (deafness at the time of birth) and goiter (enlargement of the thyroid gland in the front of the neck) due to a defect in the making of thyroid hormone. The features of… … Medical dictionary
Pendred syndrome — Pendred syndrome. См. синдром Пендреда. (Источник: «Англо русский толковый словарь генетических терминов». Арефьев В.А., Лисовенко Л.А., Москва: Изд во ВНИРО, 1995 г.) … Молекулярная биология и генетика. Толковый словарь.
Syndrome, goiter-deafness — The goiter deafness syndrome, commonly called Pendred syndrome, is the hereditary association of congenital deafness (deafness at the time of birth) and goiter (enlargement of the thyroid gland in the front of the neck) due to a defect in the… … Medical dictionary
Pendred's syndrome — ▪ pathology hereditary metabolic condition that is characterized by deafness and defective incorporation of iodine into thyroid hormone, resulting in goitre or enlargement of the thyroid gland. Pendred s syndrome is a major cause of… … Universalium
syndrome — The aggregate of symptoms and signs associated with any morbid process, and constituting together the picture of the disease. SEE ALSO: disease. [G. s., a running together, tumultuous concourse; (in med.) a concurrence of symptoms, fr. syn,… … Medical dictionary
Pendred's syndrome — goitre associated with congenital deafness due to deficiency of peroxidase, an enzyme that is essential for the utilization of iodine. V. Pendred (1869 1946), British physician … Medical dictionary
Pendred's syndrome — goitre associated with congenital deafness due to deficiency of peroxidase, an enzyme that is essential for the utilization of iodine. [V. Pendred (1869–1946), British physician] … The new mediacal dictionary
