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Clinical Note
December 2004

Severe Tracheobronchial Stenosis in the X-Linked Recessive Form of Chondrodysplasia Punctata

Arch Otolaryngol Head Neck Surg. 2004;130(12):1423-1426. doi:10.1001/archotol.130.12.1423

The X-linked recessive form of chondrodysplasia punctata, characterized by chondrodysplasia and punctate calcification of cartilage, is caused by a defect in the vitamin K–dependent enzyme arylsulfatase E. We herein describe a male infant with chondrodysplasia punctata and stenosis and calcification of the entire trachea and main bronchi. To our knowledge, this is the first case of chondrodysplasia punctata reported in the English literature with such extensive airway manifestations.