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  • 1
    Electronic Resource
    Electronic Resource
    X-linked deafness, stapes gushers and a distinctive defect of the inner ear (1991)
    Springer
    Neuroradiology 33 (1991), S. 326-330 
    Details
    ISSN: 1432-1920
    Keywords: Deafness ; Congenital malformation ; Fistula
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary The association of X-linked mixed deafness with stapes gusher has been recognised for 20 years, and imaging studies by polytomography have shown dilatation of the lateral end of the internal auditory meatus (IAM) in some cases. We have made genetic linkage studies in 7 pedigrees in whom deafness was inherited in an X-linked manner. All patients had a full range of audiometric and vestibular function tests. Thin section high resolution CT in two planes was used to assess the state of the middle and inner ears. We found a distinctive inner ear deformity in some of the deaf males characterised not only by a wide bulbous IAM but more importantly, by deficient or absent bone between the lateral end of the IAM and the basal turn of the cochlea. We believe that this results in a communication between the subarachnoid space in the IAM and the perilymph in the cochlea, leading to perilymphatic hydrops and a “gusher” if the stapes is disturbed. Moreover, some of the obligate female carriers seem to have a milder form of the same anomaly associated with slight hearing loss. Genetic studies on some of the deaf males with apparently normal inner ear anatomy suggest a different locus on the X chromosome and hence a different pathogenesis for the deafness.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00587816
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    Paper (German National Licenses)
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  • 2
    Electronic Resource
    Electronic Resource
    Elastin Mutation and Cardiac Disease (1999)
    Springer
    Pediatric cardiology 20 (1999), S. 103-107 
    Details
    ISSN: 1432-1971
    Keywords: Key words: Supravalvular aortic stenosis — William's syndrome — Elastin
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract. Characterization of the molecular basis of structural cardiac disease includes elucidating the pathogenesis of certain vascular disease by demonstrating mutations of the Elastin gene as the cause of familial supravalvular aortic stenosis (SVAS) and Williams' syndrome (WS). Defining the etiology of SVAS has clinical implications in terms of prenatal and presymptomatic diagnosis and possible earlier intervention with medical therapy. This review considers the evidence relating Elastin mutations to SVAS and WS and outlines the possible mechanisms by which these mutations give rise to cardiac disease. Finally, the implications which Elastin mutation identification has on current clinical practice and future research directions are considered.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s002469900415
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    Paper (German National Licenses)
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  • 3
    Electronic Resource
    Electronic Resource
    Sacral dysgenesis associated with terminal deletion of chromosome 7q: a report of two families (1999)
    Springer
    European journal of pediatrics 158 (1999), S. 902-905 
    Details
    ISSN: 1432-1076
    Keywords: Key words Sacral dysgenesis ; Anal stenosis ; Currarino syndrome ; Chromosome
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Most cases of sacral dysgenesis are considered to be sporadic events. We present two families in whom the presence of associated clinical features prompted specific investigation of chromosome 7, leading to the identification of an underlying chromosome 7q deletion causing sacral dysgenesis. All affected individuals had microcephaly and developmental delay. Detailed cytogenetic studies confirmed that all three affected individuals had a deletion of chromosome 7q associated with their sacral dysgenesis, developmental delay and related problems. The three affected patients were studied clinically, radiologically and cytogenetically. Eleven unaffected individuals from the two families were also investigated by genetic studies, specifically evaluating chromosome 7. Conclusion It is important that detailed family history, evaluation of associated malformations and the overall clinical picture be considered in identifying the underlying diagnosis in cases of anal stenosis/sacral agenesis. The cases we present demonstrate the value of detailed chromosome studies in such situations.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004310051238
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    Paper (German National Licenses)
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