Tracheobronchial stenosis in Keutel syndrome

摘要: In 1971 Keutel et al. described a new syndrome in two siblings presenting with peripheral pulmonary stenoses, brachytelephalangism, neural hearing loss and abnormal cartilage calcification. Recent investigations provided evidence that mutations the gene encoding human matrix GLA protein cause syndrome. With these insights disease symptomatology of was reassessed. The follow-up studied by clinical post mortem examination. As feature tracheobronchial stenosis concentric calcification pulmonary, coronary, hepatic, renal, meningeal cerebral arteries were described. Complementary to results molecular genetics could be revised