Freeman-Sheldon Syndrome (Whistling-Face): Case Report

Arif Türkmen; Metin Temel; Ertan Günal; Koray Çelebi; Mehmet Bekerecioğlu

doi:10.58600/eurjther.2010-16-2-1271-arch

Authors

Arif Türkmen Gaziantep Üniversitesi Tıp Fakültesi, Plastik Rekonstrüktif ve Estetik Cerrahi AD
Metin Temel
Ertan Günal Gaziantep Üniversitesi Tıp Fakültesi, Plastik Rekonstrüktif ve Estetik Cerrahi AD
Koray Çelebi Gaziantep Üniversitesi Tıp Fakültesi, Plastik Rekonstrüktif ve Estetik Cerrahi AD
Mehmet Bekerecioğlu Gaziantep Üniversitesi Tıp Fakültesi, Plastik Rekonstrüktif ve Estetik Cerrahi AD

DOI:

https://doi.org/10.58600/eurjther.2010-16-2-1271-arch

Keywords:

Freeman-Sheldon Sydrome, Whistling face

Abstract

Freeman-Sheldon Syndrome is a well-defined rare congenital syndrome characterized with skeletal anomalies, joint contractures and typical facial appearance. Most of the cases of Freeman-Sheldon Syndrome are sporadic without family history. Etiology of this sydrome is inadequately understood. It affects the males and females equally. Early diagnosis and early successful surgical management is important to achive good results. Since almost one hundred cases have been reported in the literature uptoday, we want to present a case with Freeman- Sheldon Syndrome in this study.

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References

Wagner LA, Mazarel G. Freeman-Sheldon syndrome and Sheldon-Hall syndrome: contracting new genotypes. Clin Genet. 2006;70:192-197.

Freeman EA.Sheldon JH. Cranio-carpotarsal dystrophy: undescribed congenital malformation. Arch Dis Child. 1938;13:277-283.

Toydemir RM, Rutherford A, Whitby FG, Jorde LB, Carey JC, Bamshad MJ. Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome. Nature Genet. 2006;38:561- 565.

Buyukavcı M, Tan H, Eren S, Balcı S. A whistling face syndrome case with bilateral skin dimples. Genet Couns. 2005;16(1):71-73.

Krakowiak PA, Bohnsack JF, Carey JC, Bamshad M. Clinical Analysis of a Variant of Freeman-Sheldon Syndrome (DA2B). Am J Med Genet. 2006;76(1):93-98.

Hall JG, Reed SD, Green G. The distal arthrogryposis: Delineation of new entities-review and nosologic discussion. Am J Med Genet. 1982;11:185-239.

Hall JG. Arthrogryposis Multiplex Congenita: Etiology,Genetics, Classification, Diagnostic Approach and General Aspects. J Pediatr Orthop B. 1997;6(3):159- 166.

Bamshad M, Bohnsack JF, Jorde LB. Distal Arthrogryposis Type 1: Clinical Analysis of a Large Kindred. Am J Med Genet. 1996;65:282-285.