TY - JOUR T1 - Tracheobronchial stenosis in Keutel syndrome JF - European Respiratory Journal JO - Eur Respir J SP - 566 LP - 569 DO - 10.1183/09031936.01.17305660 VL - 17 IS - 3 AU - M. Meier AU - L.P. Weng AU - E. Alexandrakis AU - J. Rüschoff AU - G. Goeckenjan Y1 - 2001/03/01 UR - http://erj.ersjournals.com/content/17/3/566.abstract N2 - 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 in the gene encoding the human matrix GLA protein cause Keutel syndrome. With these new insights in the disease the symptomatology of Keutel syndrome was reassessed. The follow-up of the two siblings was studied by clinical and post mortem examination.As a new feature of Keutel syndrome tracheobronchial stenosis and concentric calcification of pulmonary, coronary, hepatic, renal, meningeal and cerebral arteries were described.Complementary to the results in molecular genetics the symptomatology of Keutel syndrome could be revised by clinical and post mortem examination. ER -