Renal lesion in Jeune's syndrome

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Abstract
In 3 children presenting in chronic renal failure at the ages of 6, 4 and 3 yr, radiology suggested the diagnosis of Jeune''s syndrome (asphyxiating thoracic dysplasia). In each case the skeletal survey showed widespread diagnostic features of this condition. The syndrome is characterized by varying degrees of respiratory distress in infancy and early childhood, with osseous dysplasia, hepatic fibrosis and progressive renal failure later in childhood. All 3 children died from juvenile nephronophthisis. The correct diagnosis is essential for patient, management and prognosis and for genetic counseling. This report emphasizes the importance of the renal lesions in older children with Jeune''s syndrome.