Zusammenfassung
Wir berichten von drei Fällen einer VACTERL-Assoziation mit unterschiedlicher Manifestation,
die pränatal anhand der charakteristischen Befunde entdeckt wurden. Die sonographischen
und klinischen Befunde sowie die Autopsie werden dargestellt und die Pathogenese der
VACTERL-Assoziation diskutiert. Da die meisten Fälle dieser seltenen kongenitalen
Erkrankung sporadisch auftreten, ist es wichtig die typischen Symptome sowie die Differenzialdiagnostik
möglichst genau zu klassifizieren, um eine adäquate Beratung der betroffenen Paare
anbieten zu können.
In terms of the VACTERL-Association we are dealing with a non-random association of
malformations following a defect during mesodermal development of embryogenesis due
to a variety of causes. We report on three cases with VACTERL-type malformations diagnosed
by prenatal ultrasound presenting cardial defects, renal abnormalities, single umbilical
arteries and esophageal stenosis. We present sonographical, clinical and autopsy findings
and discuss the pathogenesis of VACTERL-Association as a defect of mesenchymal development
in early embryogenesis.
Schlüsselwörter
VATER-Assoziation - VACTERL-Assoziation - Singuläre Nabelschnurarterie - Nierenfehlbildungen
pränatal
Key words
VATER-Association - VACTERL-Association - single umbilical artery - renal malformation
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01 Eingang: 27. 3. 2000
Angenommen nach Revision: 19. 6. 2000
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Dr. med. S. Tercanli
Universitäts-Frauenklinik
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Schweiz