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Severe tracheobronchial stenosis and cervical vertebral subluxation in X-linked recessive chondrodysplasia punctata

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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.

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References

  1. Mason DE, Sander JO, MacKenzie WG et al (2002) Spinal deformity in chondrodysplasia punctata. Spine 27:1995–2002

    Article  PubMed  Google Scholar 

  2. Brunetti-Pierri N, Andreucci MV, Tuzzi R et al (2003) X-linked recessive chondrodysplasia punctata: spectrum of arylsulfatase E gene mutations and expanded clinical variability. Am J Med Genet 117A:164–168

    Article  Google Scholar 

  3. Wolpoe ME, Braverman N, Lin SY (2004) Severe tracheobronchial stenosis in the X-linked recessive from of chondrodysplasia punctata. Arch Otolaryngol Head Neck Surg 120:1423–1426

    Article  Google Scholar 

  4. Kaufmann HJ, Amahboubi S, Spackman TJ et al (1976) Tracheal stenosis as a complication of chondrodysplasia punctata. Ann Radiol (Paris) 19:203–209

    CAS  Google Scholar 

  5. Herman TE, Lee BC, McAlister WH (2002) Brachytelephalangic chondrodysplasia punctata with marked cervical stenosis and cord compression: report of two cases. Pediatr Radiol 2:452–456

    Article  Google Scholar 

  6. Garnier A, Dauger S, Eurin D et al (2007) Brachytelephalangic chondrodysplasia punctata with severe spinal cord compression: report of four new cases. Eur J Pediatr 166:327–331

    Article  PubMed  Google Scholar 

  7. Violas P, Fraisse B, Chapuis M et al (2007) Cervical spine stenosis in chondrodysplasia punctata. J Pediatr Orthop B 16:443–445

    PubMed  Google Scholar 

  8. Yang BP, Mindea SA, DiPatri AJ Jr (2006) Cervical spinal cord compression in chondrodysplasia punctata. Case illustration. J Neurosurg 104(3 Suppl):212

    PubMed  Google Scholar 

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Correspondence to Gerhard S. Mundinger.

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Mundinger, G.S., Weiss, C. & Fishman, E.K. Severe tracheobronchial stenosis and cervical vertebral subluxation in X-linked recessive chondrodysplasia punctata. Pediatr Radiol 39, 625–628 (2009). https://doi.org/10.1007/s00247-009-1181-1

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  • DOI: https://doi.org/10.1007/s00247-009-1181-1

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