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


Abstract views: 68 / PDF downloads: 145

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

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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.

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Published

2010-05-01

How to Cite

Türkmen, A., Temel, M., Günal, E., Çelebi, K., & Bekerecioğlu, M. (2010). Freeman-Sheldon Syndrome (Whistling-Face): Case Report. European Journal of Therapeutics, 16(2), 39–41. https://doi.org/10.58600/eurjther.2010-16-2-1271-arch

Issue

Section

Case Reports