Difficult to control asthma in the patient with pseudoachondroplasia

BMJ Case Rep. 2011 Oct 11:2011:bcr0820114667. doi: 10.1136/bcr.08.2011.4667.


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.

Publication types

  • Case Reports

MeSH terms

  • Achondroplasia / complications*
  • Adrenal Cortex Hormones / therapeutic use
  • Adrenergic beta-2 Receptor Agonists / therapeutic use
  • Anti-Bacterial Agents / therapeutic use
  • Anti-Inflammatory Agents
  • Asthma / complications*
  • Asthma / drug therapy*
  • Azithromycin / therapeutic use
  • Female
  • Humans
  • Middle Aged
  • Prednisolone / therapeutic use
  • Pulmonary Artery / abnormalities
  • Tracheobronchomalacia / complications*


  • Adrenal Cortex Hormones
  • Adrenergic beta-2 Receptor Agonists
  • Anti-Bacterial Agents
  • Anti-Inflammatory Agents
  • Azithromycin
  • Prednisolone

Supplementary concepts

  • Pseudoachondroplasia