Report on two cases of Freeman-Sheldon syndrome ("whistling face).
The Freeman-Sheldon syndrome is a rare hereditary disorder that was described by these authors in 1938 under the name of "cranio-carpotarsal dystrophia". It is characterised by a combination of congenital malformations of which the principal are: deformities of the face and skull, flexion and ulnar deviation of the fingers and talipes. The appearance of the face is the most striking feature, the small dimension of the oral fissure giving rise to the term "whistling face" proposed by Burian (1963). Spinal curvature is often present, and can show marked progression, as in one of our cases. The congenital hip dislocation present in both our cases has not been observed in previously described cases. As far as we know, the two cases described here are the first in Italy to be added to the other twenty-eight already reported in literature.
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000601:surgery*; D001842:Bone and Bones / Q000002:abnormalities*; D002648:Child; D002675:Child, Preschool; D003025:Clubfoot / Q000150:complications*; D005145:Face / Q000002:abnormalities*; D005260:Female; D006228:Hand Deformities, Congenital; D006618:Hip Dislocation, Congenital / Q000601:surgery; D006801:Humans; D008297:Male; D011859:Radiography; D012600:Scoliosis / Q000601:surgery; D013577:Syndrome