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  • Title: Retrospective diagnosis of Jeune's syndrome in two patients with chronic renal failure.
    Author: Ring E, Zobel G, Ratschek M, Trop M, Wendler H.
    Journal: Child Nephrol Urol; 1990; 10(2):88-91. PubMed ID: 2253258.
    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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