Freeman-Sheldon syndrome

Freeman-Sheldon syndrome (FSS) is a very rare, multiple congenital contractures syndrome characterized by a microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. FSS is the most severe form of distal arthrogryposis.

Scoliosis

The presence of an abnormal lateral curvature of the spine.


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PMID (PMCID)
8933572
FEMALE
Freeman-Sheldon syndrome (whistling face syndrome) and cranio-vertebral junction malformation producing dysphagia and weight loss.
Song HR, Sarwark JF, Sauntry S, Grant J.
Pediatr Neurosurg. 1996;24(5):272-4.
We report a 13-year-old with the whistling face syndrome and dysphagia of late onset who has the typical whistling face, scoliosis and multiple joint contractures.