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Rare disease
Difficult to control asthma in the patient with pseudoachondroplasia
  1. Maria Wilczynska1,
  2. 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.

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Footnotes

  • Competing interests None.

  • Patient consent Obtained.

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