Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
Ring, E; Zobel, G; Ratschek, M; Trop, M; Wendler, H.
Retrospective diagnosis of Jeune's syndrome in two patients with chronic renal failure.
Child Nephrol Urol. 1990; 10(2):88-91
(- Case Report)
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- Führende Autor*innen der Med Uni Graz
- Ring Ekkehard
- Co-Autor*innen der Med Uni Graz
- Trop Marija
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- Abstract:
- Two patients are reported who presented at the age of 12 1/2 years with advanced chronic renal failure. Clinical findings and renal histology were consistent with nephronophthisis. The retrospective diagnosis of Jeune's syndrome was possible in both. Cone-shaped phalangeal epiphyses of hands and feet and metaphyseal chondrodysplasia of femoral heads and necks were the prominent findings on skeletal survey. One patient had a small bell-shaped thorax; in the other this aspect was present on reevaluation of neonatal X-rays. Our patients support the view that nephronophthisis is the principal cause of renal failure in Jeune's syndrome and that a wider awareness of this association could lead to detection of more so far unrecognized patients.
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