[Rare variant of a Turner-Ullrich syndrome].
A 25-year-old patient with 45-X0-Turner syndrome exhibited at autopsy dysgenesis of the ovaries and anomalies of the phenotypus and the great blood-vessels (especially coarctation of the aorta). Also found were abnormalities of the urogenital tract, osteoporosis, spider finger, "pectus excavatum" and idiopathic medionecrosis which had led to a rupture of the ascending aorta. This combination of symptoms of Turner syndrome on the one and of Marfan syndrome on the other suggests that in our case two different syndromes coincided accidentally due to a chromosomal aberration. Also worth mentioning is an extraordinary structure of the media in the great blood vessels of the pelvic and femoral region, a texture nerve previously described in the literature.
D000328:Adult; D000784:Aortic Dissection / Q000473:pathology; D001011:Aorta / Q000473:pathology; D001014:Aortic Aneurysm / Q000473:pathology; D001017:Aortic Coarctation / Q000473:pathology; D001019:Aortic Rupture / Q000473:pathology; D005260:Female; D006801:Humans; D007621:Karyotyping; D008382:Marfan Syndrome / Q000235:genetics / Q000473:pathology*; D009131:Muscle, Smooth, Vascular / Q000473:pathology; D014424:Turner Syndrome / Q000235:genetics / Q000473:pathology*
Seltene Variante eines Turner-Ullrich-Syndroms.