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951.
Nonsyndromal autosomal recessive profound childhood deafness will affect about one in 4000 children in western Europe. A nonsyndromal autosomal recessive type of profound childhood deafness was thought to be the cause of deafness in at least eight and probably 12 children from a large family with various consanguineous matings and other family interrelations. Audiograms of all affected deaf children showed a profound childhood deafness with only a very slight variation. Audiometric examinations, such as pure-tone audiometry, high-frequency audiometry, stapedial reflexes, and Bekesy audiometry, of ten obligate or presumed carriers did not show any significant findings that would allow identification of carriers of this autosomal recessive gene. Families like this one seem to be very rare. Large clinically well-studied families like this one are indispensable for gene linkage studies of nonsyndromal autosomal recessive types of profound childhood deafness. Such studies should make it possible to trace the origin of these types of childhood deafness at an early age. In consequence, carrier detection should also become available. 相似文献
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953.
Relapsing polychondritis is an autoimmune disease that affects all body cartilages. The disease may also involve the audio-vestibular system, usually bilaterally. Most of the reported cases were adults 20 years old or more. This is a case report of a 12-year-old girl with unilateral sensorineural hearing loss, and a review of the literature. 相似文献
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955.
Ethmoidal mucocoeles in children 总被引:1,自引:0,他引:1
Children presenting with ethmoidal mucocoeles are rare. Five children are presented with such findings, and the diagnosis, treatment and possible aetiology discussed. C.T. scanning was found to be the investigation of choice, while plain sinus X-rays correlated poorly with the presence of disease. Exenteration through an external approach was found to be satisfactory. In two cases drainage obstruction due to congenital abnormality was thought to be the underlying cause, while in four cases there was a strong history of atopy, indicating allergy as a possible reason for mucocoele formation. 相似文献
956.
957.
The incidence and mortality of acute epiglottitis were retrospectively analysed covering a 12-year period, 1975-1987. The diagnosis was made by the laryngoscopic findings in 95% of patients. Based on 902 hospitalized patients, a mean annual incidence of 4.9 cases per 100,000 children and adults was found. Although adult patients predominated (60%), the incidence was far higher in children, 13.8 per 100,000 compared with 3.9 per 100,000 in adults. Two peaks in incidence were identified, one for the youngest children, and the second for young adults (15-29 years). Over the years the incidence varied little in adults, but decreased significantly in children over the last 6 years studied. The data presented indicate acute epiglottitis to be a more frequent disorder than previously believed but with less risk of a fatal outcome. The mortality rate was below 1% in children and adults and the annual incidence of death from acute epiglottitis was estimated at 0.5 cases per million. The primary admission of these patients to ENT units seems to be the single factor having the most powerful impact on mortality. 相似文献
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