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  • Anal stenosis  (1)
  • Basilar artery  (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: 1433-8491
    Keywords: Ultrasonic Doppler ; Vertebral artery ; Basilar artery ; Vertebro-basilar insufficiency
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary We have examined the vertebral and subclavian arteries in 1,205 patients using directional continuous-wave (c-w) Doppler sonography, and compared the sonographic findings with the results of unilateral or bilateral retrograde brachial arteriographies in the same patients. Doppler sonography revealed 33 false positives among 909 cases with normal angiographic findings. Some types of vertebral artery (VA) lesions allowed an excellent, others a fairly good differentiation by Doppler sonography: the complete subclavian steal syndrome with constant reversal of VA flow was reliably detected (16 cases). In the incomplete steal syndrome (5 cases) sonography was superior to angiography. Two bilateral distal VA occlusions and seven basilar artery occlusions — six in the proximal third and one in the rostral third — were detected sonographically; four basilar occlusions sparing the caudal third and one case exhibiting rete mirabile anastomoses were not identified by Doppler sonography. Our acoustically defined sonographic criteria did not permit an unequivocal assignment to an anatomical variant or a vascular lesion. The sensitivity in the detection of a severe stenosis at the VA origin amounted to 16 out of 31, and to 12 of 25 in cases with a proximal VA occlusion and reconstitution of the distal VA through cervical collaterals. Our results confirm that the conventional hand-held c-w Doppler sonography cannot replace angiography in the evaluation of vertebro-basilar insufficiency. It rather serves as an aid to the decision for or against angiography, and in the follow-up of angiographically proven lesions. However, several therapeutically important lesions are readily diagnosed by sonography.
    Type of Medium: Electronic Resource
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