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  • A. carotis  (1)
  • Anal stenosis  (1)
  • 1
    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
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  • 2
    ISSN: 1433-0407
    Keywords: Schlüsselwörter Farbkodierte Duplex-Sonographie ; Fibromuskuläre Dysplasie ; intimale Variante ; A. carotis ; Key words Ultrasonography ; -doppler ; -color ; Fibromuscular-dysplasia-diagnosis ; Carotid-artery-diseases
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary Traditionally, intra-vitam diagnosis of fibromuscular dysplasia (FMD) of brain supplying arteries is a domain of conventional selective angiography. We are aware of only two publications reporting of ultrasound displayed intimal and medial variants of carotid artery FMD, in one case each. We present a patient in whom color-coded duplex-sonography revealed a web-like carotid artery bulb stenosis meeting the specific criteria of a subtype of intimal FMD.
    Notes: Zusammenfassung Die intra vitam Diagnose der fibromuskulären Dysplasie (FMD) hirnversorgender Arterien gilt als eine Domänie der selektiven Katheterangiographie. Bislang liegen nur zwei Mitteilungen über die Diagnose der FMD durch B-Bild- beziehungsweise Duplex-Sonographie der A. carotis vor, eine davon mit Darstellung eines membranösen intimalen Subtyps der FMD. Wir konnten bei einem Patienten die spezifischen Kriterien einer septalen intimalen FMD des Bulbus caroticus Duplex-sonographisch dokumentieren.
    Type of Medium: Electronic Resource
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