Reiterer F, Müller W D, Wendler H
Klin Padiatr. 1986 Jul-Aug;198(4):340-3. doi: 10.1055/s-2008-1033884.
The asphyxiating thoracic dysplasia (Jeune syndrome) is inherited as an autosomal recessive disorder. It's main characteristics are a narrow thorax with typical radiologic features resulting in respiratory problems of varying degrees. In addition typical changes of the pelvic bones and the phalanges may be demonstrated radiographically. The "major form" usually leads to respiratory failure in early infancy. If the patients survive the neonatal period they may suffer from recurrent infections of the respiratory tract. But there are also patients without respiratory problems. Renal abnormalities and renal failure are a significant feature and a hazard in later life. Patient 1, a female newborn infant with severe manifestation of the clinical and radiologic signs died from respiratory insufficiency on the 17, day of life despite of artificial ventilation. Patient 2, a now eight month old female child with typical radiologic features represents the "minor form". She had respiratory problems only during the first days of life when she required artificial ventilation and is now at a good general condition.
窒息性胸廓发育不良（朱恩综合征）以常染色体隐性障碍的方式遗传。其主要特征是胸廓狭窄，伴有典型的放射学特征，导致不同程度的呼吸问题。此外，骨盆骨和指骨的典型变化可通过放射学检查显示。“主要类型”通常在婴儿早期导致呼吸衰竭。如果患者能度过新生儿期，他们可能会反复出现呼吸道感染。但也有患者没有呼吸问题。肾脏异常和肾衰竭是一个显著特征，也是日后生活中的一大危害。病例1是一名患有严重临床和放射学症状的女婴，尽管进行了人工通气，仍在出生后第17天死于呼吸功能不全。病例2是一名目前8个月大的女童，具有典型的放射学特征，代表“轻微类型”。她仅在出生后的头几天有呼吸问题，当时需要人工通气，目前总体状况良好。
