Tracheobronchial Tree Ossification in a 5-Year-Old Boy with Keutel Syndrome: A Case Report.

ABSTRACT: Keutel syndrome (KS) as a scarce autosomal recessive disorder is characterized by hearing loss, multiple peripheral pulmonary stenoses, abnormal cartilage calcification, and morphological defects including midface hypoplasia and brachytelephalangism. We herein describe a 5-year-old boy who was referred for the evaluation of incidentally auscultated heart murmurs. He had no obvious abnormalities at birth but suffered from recurrent episodes of infectious otitis media during infancy. Physical examination revealed facial abnormalities, such as a broad nasal bridge, a sloping forehead, maxillary hypoplasia, and brachytelephalangism. Chest radiography showed tracheobronchial tree calcification. Transthoracic echocardiography illustrated peripheral pulmonary artery stenosis, moderate tricuspid r

SUBMITTER: Shabanian R 

PROVIDER: S-EPMC10222938 | biostudies-literature | 2022 Jul

REPOSITORIES: biostudies-literature