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  • Title: [Genetically determinded deafness; 5 cases of Pendred's syndrome (author's transl)].
    Author: Hörmann K, Held KR.
    Journal: HNO; 1980 Jun; 28(6):206-8. PubMed ID: 6253416.
    Abstract:
    In our experience, Pendred's Syndrome is the most frequent one clinically seen of 124 syndromes with genetically determined deafness. It is defined as a triad: congenital perceptive hearing loss, goiter, and an abnormal perchlorate test. Inheritance is by an autosomal-recessive pattern. In 5 patients seen by us--one of whom had experienced multiple episodes of sudden deafness--the difficulty of diagnosis is shown. We also emphasize the need for genetic counselling in families with the known syndrome.
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