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Report on two cases of Freeman-Sheldon syndrome ("whistling face).
Ital J Orthop Traumatol. 1980 Apr; 6(1):105-15.IJ

Abstract

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.

Authors

No affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

7203992

Citation

Savini, R, and G Gualdrini. "Report On Two Cases of Freeman-Sheldon Syndrome ("whistling Face)." Italian Journal of Orthopaedics and Traumatology, vol. 6, no. 1, 1980, pp. 105-15.
Savini R, Gualdrini G. Report on two cases of Freeman-Sheldon syndrome ("whistling face). Ital J Orthop Traumatol. 1980;6(1):105-15.
Savini, R., & Gualdrini, G. (1980). Report on two cases of Freeman-Sheldon syndrome ("whistling face). Italian Journal of Orthopaedics and Traumatology, 6(1), 105-15.
Savini R, Gualdrini G. Report On Two Cases of Freeman-Sheldon Syndrome ("whistling Face). Ital J Orthop Traumatol. 1980;6(1):105-15. PubMed PMID: 7203992.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Report on two cases of Freeman-Sheldon syndrome ("whistling face). AU - Savini,R, AU - Gualdrini,G, PY - 1980/4/1/pubmed PY - 1980/4/1/medline PY - 1980/4/1/entrez SP - 105 EP - 15 JF - Italian journal of orthopaedics and traumatology JO - Ital J Orthop Traumatol VL - 6 IS - 1 N2 - 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. SN - 0390-5489 UR - https://www.unboundmedicine.com/medline/citation/7203992/Report_on_two_cases_of_Freeman_Sheldon_syndrome__"whistling_face__ L2 - http://www.diseaseinfosearch.org/result/2921 DB - PRIME DP - Unbound Medicine ER -