| Literature DB >> 22675014 |
Maria Wilczynska1, Teresa Ching.
Abstract
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.Entities:
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Year: 2011 PMID: 22675014 PMCID: PMC3207788 DOI: 10.1136/bcr.08.2011.4667
Source DB: PubMed Journal: BMJ Case Rep ISSN: 1757-790X