Die Varianz im Erscheinungsbild und Verlauf der asphyxierenden Thoraxdysplasie (Jeune Syndrom)

Abstract

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.

Indications and practice of home invasive mechanical ventilation in children

“…23,24 In conditions such as Jeune syndrome, achondroplasia, and large omphalocele, the development of the chest wall is affected; leading to hypoventilation. [25][26][27] Moreover, scoliosis with a spinal angle greater than 70°may lead to restrictive lung disease.…”