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 loci, by performing EYA1 multiplex ligationdependent probe amplification (MLPA) analysis for deletions and duplications and by sequencing of EYA1, SIX1 and SIX5. We identified four EYA1 mutations (c.920delG, IVS10À1G4A, IVS12 þ 4A4G and p.Y591X) and one SIX1 mutation (p.W122R), providing a molecular diagnosis in five out of the six families (83%). The present, yet preliminary, observation that renal and temporal bone malformations are less frequent in SIX1-related disease suggests a slightly different clinical profile compared to EYA1-related disease. Unidentified mutations impairing mRNA expression or further genetic heterogeneity may explain the lack of mutation finding in one family despite LOD score indications of EYA1 involvement.
A family group with confirmed branchio-oto-renal (BOR) syndrome was investigated in this study. Computerized tomography of the temporal bones has demonstrated that the malformations of the inner ear consist of hypoplastic structural changes within the cochlea with reduced vertical diameters, and absent or hypoplastic semicircular canals and normal endolymphatic ducts. It is concluded that in the present cases, the Mondini malformation of the cochlea is not associated with the BOR syndrome.
In the past the Mondini malformation of the cochlea has been described histologically on the basis of findings in one temporal bone from a patient with confirmed Pendred's syndrome. The present study presents the histological examination of six temporal bones from 5 patients with confirmed Pendred syndrome. The characteristic Mondini cochlea was found in all preparations. It is concluded that the inner ear malformation in Pendred's syndrome is more in accordance with Mondini's original description than in other syndromes in which a Mondini-like cochlea has been described.
Otolaryngological complications occurred in 5 per cent of 467 patients with infectious mononucleosis admitted consecutively to the ENT-department during the period 1 April 1969 to 30 June 1981. Four patients had peritonsillar abscess and five patients developed potentially lethal obstruction of the upper airway. Such complications require intervention and, as the latter condition probably is the most frequent fatal complication of IM, we find it important that patients with even slight respiratory embarassment in infectious mononucleosis should be observed and treated in an ENT-department.
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