Severe tracheobronchial stenosis in the X-linked recessive form of ghondrodysplasia punctata

Matthew E. Wolpoe, Nancy Braverman, Sandra Y. Lin

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish (US)
Pages (from-to)1423-1426
Number of pages4
JournalArchives of Otolaryngology - Head and Neck Surgery
Volume130
Issue number12
DOIs
StatePublished - Dec 1 2004

ASJC Scopus subject areas

  • Surgery
  • Otorhinolaryngology

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