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(Freeman Sheldon syndrome)
161 results
  • Freeman-Burian syndrome. [Review]
    Orphanet J Rare Dis 2019; 14(1):14Poling MI, Dufresne CR, Chamberlain RL
  • Freeman-Burian syndrome (FBS) is a rare congenital myopathic craniofacial syndrome. Considerable variability in severity is seen, but diagnosis requires the following: microstomia, whistling-face appearance (pursed lips), H or V-shaped chin defect, and prominent nasolabial folds. Some patients do not have limb malformations, but essentially all do, typically camptodactyly with ulnar deviation of …
  • Revisiting the Many Names of Freeman-Sheldon Syndrome. [Journal Article]
    J Craniofac Surg 2018; 29(8):2176-2178Poling MI, Dufresne CR
  • While officially designated as distal arthrogryposis type 2A, the condition commonly referred to as Freeman-Sheldon syndrome (FSS) also historically has been termed craniocarpotarsal dystrophy, whistling face syndrome, and craniocarpotarsal dysplasia and classified at different times as a skeletal dysplasia, nonprogressive myopathy, craniofacial syndrome, and distal arthrogryposis. Having previou…
  • Anesthetic Considerations for an Adult Patient with Freeman-Sheldon Syndrome Undergoing Open Heart Surgery. [Case Reports]
    Case Rep Anesthesiol 2018; 2018:7862327Viehmeyer S, Gabriel P, … Hilberath JN
  • Freeman-Sheldon syndrome (FSS) or "whistling face" syndrome is a rare congenital disorder complicated by characteristic facial deformities and muscular contractures. We report on a 64-year-old male patient presenting for surgical replacement of his aortic valve and review the available literature on anesthetic considerations and perioperative management principles. FSS frequently poses a signific…
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