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Matthew E. Wolpoe, MD; Nancy Braverman, MS, MD; Sandra Y. Lin, MD

Arch Otolaryngol Head Neck Surg. 2004;130:1423-1426.

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.

Author Affiliations: Department of Otolaryngology–Head & Neck Surgery (Drs Wolpoe and Lin) and McKusick-Nathans Institute for Genetic Medicine (Dr Braverman), The Johns Hopkins School of Medicine, Baltimore, Md.