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Case Reports

A case of blepharophimosis: Freeman Sheldon syndrome

, , ORCID Icon, , &
Pages 130-133 | Received 24 Jul 2021, Accepted 19 Sep 2021, Published online: 19 Oct 2021

References

  • Kapoor S. A unique and often overlooked cause of blepharophimosis: “Whistling face syndrome.” Orbit (Amsterdam, Netherlands). 2016;35:350.
  • Portillo AL, Poling MI, McCormick RJ. Surgical approach, findings, and eight-year follow-up in a twenty-nine year old female with Freeman-Sheldon syndrome presenting with blepharophimosis causing near-complete visual obstruction. J Craniofac Surg. 2016;27:1273–76. doi:10.1097/SCS.0000000000002781.
  • 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. Nat Genet. 2006 May;38(5):561–65. doi:10.1038/ng1775. Epub 2006 Apr 16.
  • Tajsharghi H. Embryonic myosin heavy-chain mutations cause distal arthrogryposis and developmental myosin myopathy that persists postnatally. Arch Neurol. 2008;65(8):1083–90. doi:10.1001/archneur.65.8.1083. PubMed ID: 18695058.

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