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}


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.


  • Competing interests None.

  • Patient consent Obtained.

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