title: [Keutel syndrome with tracheal stenosis as the major symptom: case report and literature review].
abstract: OBJECTIVE
  To investigate the clinical characteristics, diagnosis and therapy of Keutel syndrome, and thereby to minimize the misdiagnosis.
  
  
  METHODS
  Data of a case of Keutel syndrome diagnosed at the Provincial Hospital Affiliated to Shandong University were analyzed and related literature were reviewed.
  
  
  RESULTS
  An 8-month-26-day-old boy was presented with inspiratory and expiratory stridor and wheezing after movement on lung auscultation. His craniofacial appearance was characterized by midfacial hypoplasia with a broad depressed nasal bridge. The nose was small and flat. A grade 2-3/6 systolic murmur was heard between the second and third ribs at left edge of the sternum. The end phalanges of his fingers were thickened. Chest radiograph showed tracheobronchial cartilage calcification and tracheobronchial stenosis. Echocardiographic examination revealed the right pulmonary stenosis. With endoscopic surgery, antiobstructive and antibiotic therapy clinical symptoms were improved. Three weeks later he died of lung reinfection after he was discharged from our hospital. English literature search with "Keutel syndrome" as the key word at "PubMed" showed 22 articles covering 26 patients, and the clinical symptoms were hearing loss (91%), persistent respiratory symptoms (68%), recurrent otitis media/sinusitis (67%), growth development delay (52%) in turn, and signs were brachytelephalangism (100%), low nasal bridge (95%), midfacial hypoplasia (93%), cardiac murmur (69%), and auxiliary examinations showed abnormal cartilage calcification (100%), pulmonary arterial stenosis (72%), tracheobronchial stenosis (50%).
  
  
  CONCLUSIONS
  The diagnosis of Keutel syndrome should be considered in patients with brachytelephalangism, abnormal cartilage calcification, peripheral pulmonary stenosis, and midfacial hypoplasia. Tracheal stenosis was main clinical manifestation in part of patients.
authors.affiliation: Department of Pediatrics, Provincial Hospital Affiliated to Shandong University, Jinan.
authors.forename: Li-feng
authors.initials: LF
authors.lastname: Sun
authors.forename: Yun-fei
authors.initials: YF
authors.lastname: Ju
authors.forename: Guo-jing
authors.initials: GJ
authors.lastname: Fu
authors.forename: Jin-rong
authors.initials: JR
authors.lastname: Wang
authors.forename: Yi-zhen
authors.initials: YZ
authors.lastname: Feng
authors.forename: Xing
authors.initials: X
authors.lastname: Chen
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000628:therapy; D001842:Bone and Bones / Q000000981:diagnostic imaging; D002114:Calcinosis / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000628:therapy; D002356:Cartilage / Q000000981:diagnostic imaging; D002357:Cartilage Diseases / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000628:therapy; D003937:Diagnosis, Differential; D006228:Hand Deformities, Congenital / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000628:therapy; D006801:Humans; D007223:Infant; D008297:Male; D011666:Pulmonary Valve Stenosis / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000628:therapy; D013902:Radiography, Thoracic; D012189:Retrospective Studies; D014057:Tomography, X-Ray Computed; D014135:Tracheal Stenosis / Q000175:diagnosis* / Q000000981:diagnostic imaging