Freeman–Sheldon syndrome with respiratory failure: A case report

Summary 

The Freeman–Sheldon syndrome is a rare congenital dysplasia principally characterised by facial and skeletal abnormalities secondary to a generalised myopathy. Thoracic scoliosis and facial abnormalities are the important features of this disease, and if left untreated, these can cause complications such as respiratory failure. We present the case of a 12-year-old girl with recurrent episodes of breathlessness who eventually presented with established cor pulmonale as a result of chronic respiratory failure. We hope that by presenting this case we can raise awareness of the possibility of extra-pulmonary restriction causing the patient's symptoms when physicians are presented with similar clinical scenarios.

Keywords: Freeman–Sheldon syndrome