Shah K J
Br J Radiol. 1980 May;53(629):432-6. doi: 10.1259/0007-1285-53-629-432.
In three children, presenting in chronic renal failure at the ages of six, four and three years radiology suggsested 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 repiratory distress in infancy and early childhood, with osseous dl three children in this study died from juvenile nephronopthisis. The correct diagnosis is essential for patient management and prognosis and also for genetic counselling. This report emphasizes the importance of the renal lesions in older children with Jeune's syndrome.
三名儿童分别在6岁、4岁和3岁时出现慢性肾衰竭，放射学检查提示诊断为约内氏综合征（窒息性胸廓发育不良）。在每例病例中，骨骼检查均显示出该疾病广泛的诊断特征。该综合征的特点是婴儿期和儿童早期出现不同程度的呼吸窘迫，伴有骨骼发育异常。本研究中的三名儿童死于青少年肾单位肾痨。正确的诊断对于患者的治疗和预后以及遗传咨询至关重要。本报告强调了约内氏综合征大龄儿童肾脏病变的重要性。
