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.
Fig.1 Midface hypoplasia is
present with a depressed nasal bridge and small
Keutel syndrome is a rare autosomal
recessive disease, with 27 reported cases from 19 families
in several countries; mostly from the Middle East. All of
them showed tracheobronchial calcification, and five of them
had stenosis of the tracheobronchial tree [1,2]. Our patient
is the fifth patient with tracheobronchial stenosis, which
should be emphasized as another remarkable feature in this
syndrome. Meier, et al.  have reported subglottic
laryngeal stenosis in two siblings, and post mortem
examination in the young male revealed small cartilaginous
rings with abnormal endochondral calcification causing
stenosis of the trachea and the bronchi. Cartilage rings
were not found in the trachea of the patient.
In recent years, the interest for
endoscopic treatment modalities had increased in tracheal
surgery as a possible alternative to surgical resection.
Endoscopy has been suggested as the first choice for simple
stenosis, and success rate of 96% has been reported. So far,
this approach has rarely been used in children. Our patient
accepted bronchoscopic cryotherapy and balloon dilatation
four times, and the diameter of the subglottic laryngeal
stenosis was expanded from 3 mm to 4.5 mm. The clinical
symptoms improved after endoscopy, but he died of lung
reinfection three weeks after discharge from our hospital.
1. Meier M, Weng LP, Alexandrakis E,
Rüschoff J, Goeckenjan G. Tracheobronchial stenosis in
Keutel syndrome. Eur Respir J. 2001;17:566-9.
2. Giovanni G, Gabriele L, Paolo B. Interventional
endoscopy in the management of benign tracheal stenoses:
definitive treatment at long-term follow-up. Eur J
Cardiothorac Surg. 2009;35:429-434.