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.