rss
BMJ Case Reports 2011; doi:10.1136/bcr.08.2011.4667
  • Rare disease

Difficult to control asthma in the patient with pseudoachondroplasia

  1. Teresa Ching2
  1. 1Respiratory Medicine Department, Prince Philip Hospital, LLanelli, UK
  2. 2Respiratory Medicine Department, Glan Clwyd Hospital, Rhyl, UK
  1. Correspondence to Dr Maria Wilczynska, mwilczynska{at}doctors.org.uk

Summary

Pseudoachondroplasia (PsA) is a type of short-limbed dwarfism resulting from mutations in the cartilage oligomeric matrix protein gene. Skeletal involvement in the PsA is well-described but there are not any published cases reporting airways involvement. The authors present a case of a female with the PsA and congenital anomalies of the respiratory tract resulting in the tracheobronchomalacia and a difficult to control asthma.

Footnotes

  • Competing interests None.

  • Patient consent Obtained.

Register for free content

The full text of all Editor's Choice articles and summaries of every article are free without registration

The full text of Images in ... articles are free to registered users

Only fellows can access the full text of case reports (apart from Editor's Choice) - become a fellow today, or encourage your institution to, so that together we can grow and develop this resource

Don't forget to sign up for content alerts so you keep up to date with all the case reports as they are published, and let us know what you think by commenting on the Editor's blog

Navigate This Article