title: Retrospective diagnosis of Jeune's syndrome in two patients with chronic renal failure.
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.
authors: Department of Pediatrics, University of Graz, Austria.
authors: E
authors: E
authors: Ring
authors: G
authors: G
authors: Zobel
authors: M
authors: M
authors: Ratschek
authors: M
authors: M
authors: Trop
authors: H
authors: H
authors: Wendler
mesh_terms: D001238:Asphyxia Neonatorum / Q000150:complications* / Q000175:diagnosis; D002648:Child; D006801:Humans; D007231:Infant, Newborn; D007668:Kidney / Q000473:pathology; D007674:Kidney Diseases / Q000209:etiology* / Q000473:pathology; D007676:Kidney Failure, Chronic / Q000209:etiology*; D008297:Male; D010009:Osteochondrodysplasias / Q000150:complications* / Q000175:diagnosis; D013577:Syndrome; D013909:Thorax / Q000002:abnormalities*