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The branchio-oto-renal (BOR) syndrome is an autosomal-dominant disorder characterized by hearing loss, branchial and renal anomalies. BOR is genetically heterogeneous and caused by mutations in EYA1 (8q13.3), SIX1 (14q23.1), SIX5 (19q13.3) and in an unidentified gene on 1q31. We examined six Danish families with BOR syndrome by assessing linkage to BOR… (More)
Auricular pseudocyst is a benign idiopathic disease, which typically presents as painless spontaneous swelling over the anterior part of the auricle. It has usually been diagnosed in young healthy male patients. Its aetiology remains unknown, but hypothetically congenital dysplasia or chronic low-grade trauma could be the main causes. We present two case… (More)
A case of perichondritis and necrosis of the cartilage of the outer ear after acupuncture of the ear is presented. Repeated cultures showed growth of Pseudomonas aeruginosa. Despite intensive antibiotic treatment and extensive surgical toilet, the patient developed a severely deformed outer ear.
We report an unusual case of Wegener's granulomatosis in a patient presenting with stridor and tracheal narrowing as the initial manifestation of the disease.