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Lung function in diastrophic dysplasia *

Diastrophic dysplasia (DD) is a rare skeletal dysplasia characterized by short‐limbed short stature, contractures and early degeneration of joints, and spinal deformities such as scoliosis. Mortality is increased in the neonatal period, in part due to tracheo‐ and bronchomalacia. Additionally, spinal deformities are very rigid, decreasing mobility of the chest cage. The aim of our study was to evaluate lung volumes and airway flow dynamics in patients with DD. A total of 31 patients (12 males, 19 females) underwent a detailed clinical examination measurements of standing height PA‐radiography of the spine, flow‐volume spirometry, and body plethysmography. The patients were assigned to two groups: children and adolescents (0–18 years, n = 18) and adults (over 18 years, n = 13).