ABSTRACT

Jeune syndrome is a rare skeletal chondrodystrophy inherited autosomal recessively. Patients usually die from respiratory insufficiency in early infancy. The disease has a wide clinical spectrum including renal dysplasia, retinitis pigmentosa, and hepatic and pancreatic fibrosis. We herein present a case of Jeune syndrome admitted with findings of respiratory distress and detected to have anteroposterior and transverse thoracic narrowing, flatting of acetabular ceiling and nephrocalsinosis on radiologic examination in order to emphasize the need of early diagnosis and close observation in these cases because of sudden death risk.