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 regurgitation, and pulmonary hypertension. Computed tomography angiography confirmed calcification and segmental stenosis in the peripheral pulmonary arteries. The patient was diagnosed with KS. Most of these patients have a good prognosis. During the follow-up of these patients and examinations, we should pay attention to their symptoms related to upper respiratory tract infections, the extent of hearing, and the possibility of tracheal and pulmonary artery stenosis development. KS is a disease with a good prognosis, and a careful initial examination of babies, including facial appearance and heart auscultation, may lead to the early diagnosis of this disease.
Keywords: Calcification of cartilages; Keutel syndrome; Pulmonic stenosis; brachytelephalangism.
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