Freeman-Burian syndrome

Freeman-Burian syndrome

Abstract Clinical description 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 nasolab...

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Bibliographic Details
Main Authors: Mikaela I. Poling, Craig R. Dufresne, Robert L. Chamberlain
Format: Article
Language:English
Published: BMC 2019-01-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Freeman-Sheldon syndrome
Whistling face syndrome
Craniocarpotarsal dystrophy
Craniocarpotarsal dysplasia
Distal arthrogryposis type 2A
Embryonic myosin heavy chain
Online Access:http://link.springer.com/article/10.1186/s13023-018-0984-2

Internet

http://link.springer.com/article/10.1186/s13023-018-0984-2

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