| Autosomal recessive non-syndromal progressive sensorineural deafness in childhood. A separate clinical and genetic entity. | |
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MedLine Citation:
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PMID: 552379 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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In a family with 11 children, three sibs (two boys and a girl) show progressive sensorineural deafness, first noticed at ages 4, 7 and 11, respectively. The progression of deafness was registered in each of these sibs over a period ranging from 9 to 15 years. The speech perception has simultaneously diminished, as observed also in the case of recruitment. The parents and the other sibs in this family have normal hearing. The parents were demonstrably consanguineous, and autosomal recessive transmission is therefore postulated. A syndromal diagnosis could not be established because general physical, neurological ophthalmological and haematological examination as well as urinalysis revealed no associated characteristics. A syphilitic infection was therefore also excluded as a possible cause. Pendred's syndrome was excluded by means of a potassium perchlorate test. It is believed that these three sibs are suffering from autosomal recessive non-syndromal progressive sensorineural deafness - a type of deafness hardly mentioned in the literature. Several authors differentiate this type of deafness from autosomal recessive early-onset neural deafness. |
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Authors:
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C W Cremers |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: International journal of pediatric otorhinolaryngology Volume: 1 ISSN: 0165-5876 ISO Abbreviation: Int. J. Pediatr. Otorhinolaryngol. Publication Date: 1979 Dec |
Date Detail:
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Created Date: 1981-01-16 Completed Date: 1981-01-16 Revised Date: 2004-11-17 |
Medline Journal Info:
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Nlm Unique ID: 8003603 Medline TA: Int J Pediatr Otorhinolaryngol Country: NETHERLANDS |
Other Details:
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Languages: eng Pagination: 193-9 Citation Subset: IM |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Adult Child Child, Preschool Deafness / diagnosis, genetics* Female Humans Male Pedigree |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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