Tracheobronchial Stenosis in Keutel Syndrome

Keutel syndrome is characterized by brachytelephalangism, abnormal cartilage calcification, peripheral pulmonary stenoses, and midfacial hypoplasia. We report the first case from East Asia in an 8-month-old boy who had the typical craniofacial appearance characterized by midfacial hypoplasia with a broad depressed nasal bridge (Fig. 1). The distal phalanges of fingers were thickened. Auscultation revealed a grade 2-3/6 systolic murmur over heart, pronounced in the second and third intercostal space, and an inspiratory and expiratory stridor and wheezing over both lungs. Chest radiograph and computed tomography showed tracheobronchial cartilage calcification and tracheobronchial stenosis, confirmed on bronchoscopy. Echocardiography revealed peripheral pulmonary stenosis.