[Genetically determinded deafness; 5 cases of Pendred's syndrome (author's transl)].
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.
D000293:Adolescent; D002648:Child; D005260:Female; D005808:Genes, Recessive; D006042:Goiter / Q000150:complications*; D034381:Hearing Loss / Q000235:genetics*; D006312:Hearing Loss, Bilateral / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000150:complications; D008297:Male; D010472:Perchlorates
D010472:Perchlorates
Zur Abklärung genetisch bedingter Schwerhörigkeit. 5 Fälle von Pendred-Syndrom.