منابع مشابه
PENDRED\'S SYNDROME REVISITED
Pendred's syndrome is defined as a triad of congenital perceptive hearing loss, goiter, and abnormal perchlorate test. Three brothers with Pendred's syndrome [P.S.] are reported. The oldest brother has hearing loss (he has been deaf and mute since childhood) and has a large goiter. A thyroid scan revealed euthyroid multinodular goiter and a perchlorate test was performed, and reported abno...
متن کاملPendred Syndrome: A Case Report
In this article Pendred's syndrome, which is the combination of - congenital goitre with deafmutism, is discussed. This type of goitre is due to a special enzymatic defect, involving a process of hormonogenesis, which is respon-· sible for the incorporation of iodide in the tyrosine molecule. A case of pendred's syndrome is presented in a 16-year-old girl. This girl has never been able to...
متن کاملPendred syndrome in Tunisia.
OBJECTIVES We report a clinical and genetic study of three consanguineous Tunisian families affected by Pendred syndrome. PATIENTS AND METHODS Three families from the south of Tunisia were identified as affected by Pendred syndrome. The patients and their families underwent ENT and general examination and audiovestibular and radiological tests. Molecular DNA analysis was performed by the Sfax...
متن کاملCase of Delayed Diagnosis of Shone Syndrome in a Patient Planning for Pregnancy
Introduction: Shone syndrome is a rare congenital cardiac abnormality; however, many of the cases remain undiagnosed until early and mid-adulthood. Different Imaging modalities are used to assess the related structural abnormalities. Case presentation: In this case study, we report a 32 yo woman who was planning for her first pregnancy. In consideration to her childhood heart problems, besides...
متن کاملPendred syndrome--100 years of underascertainment?
Pendred syndrome is an autosomal recessive condition classically characterized by deafness and goitre. Since both cochlear and thyroid pathology are required to secure the diagnosis, it is unclear whether the condition might present without the classical features. The perchlorate discharge test, the gold-standard investigation for Pendred syndrome, is non-specific, and in the absence of alterna...
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ژورنال
عنوان ژورنال: BMJ Case Reports
سال: 2016
ISSN: 1757-790X
DOI: 10.1136/bcr-2016-215271