Severe tracheobronchial stenosis and cervical vertebral subluxation in X-linked recessive chondrodysplasia punctata |
| |
| Authors: | Gerhard S. Mundinger Clifford Weiss Elliot K. Fishman |
| |
| Affiliation: | (1) Division of Plastic, Reconstructive, and Maxillofacial Surgery, Johns Hopkins Hospital, 601 N. Caroline St., JHOC 8-152, Baltimore, MD 21287-0006, USA;(2) The Russell H. Morgan Department of Radiology and Radiological Science, Johns Hopkins Hospital, 600 North Wolfe Street, Baltimore, MD, USA |
| |
| Abstract: | Radiologic manifestations of X-linked chondrodysplasia punctata (CDPX1) typically include chondrodysplasia, epiphyseal stippling, punctate calcification of cartilage, distal phalangeal hypoplasia, and nasal/midface hypoplasia. We present an infant with CDPX1 demonstrating calcification and stenosis of the entire trachea and mainstem bronchi, as well as possible anterior C1 subluxation due to progression of congenital vertebral dysplasia. |
| |
| Keywords: | X-linked chondrodysplasia punctata CDPX1 Tracheal stenosis Vertebral dysplasia |
| 本文献已被 SpringerLink 等数据库收录！ |
|
