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Page 1
Freeman-Burian syndrome.
Poling MI, Dufresne CR, Chamberlain RL. Poling MI, et al. Orphanet J Rare Dis. 2019 Jan 10;14(1):14. doi: 10.1186/s13023-018-0984-2. Orphanet J Rare Dis. 2019. PMID: 30630514 Free PMC article. Review.
Genotype-phenotype relationships in Freeman-Sheldon syndrome.
Beck AE, McMillin MJ, Gildersleeve HI, Shively KM, Tang A, Bamshad MJ. Beck AE, et al. Am J Med Genet A. 2014 Nov;164A(11):2808-13. doi: 10.1002/ajmg.a.36762. Epub 2014 Sep 25. Am J Med Genet A. 2014. PMID: 25256237
Distal arthrogryposis (DA) syndromes are a group of disorders characterized by multiple congenital contractures. DA type 2A (DA2A or Freeman-Sheldon syndrome), caused by mutations in MYH3, is typically considered the most severe of the DA syndromes. Ho …
Distal arthrogryposis (DA) syndromes are a group of disorders characterized by multiple congenital contractures. DA type 2A (DA2A or …
Revisiting the Many Names of Freeman-Sheldon Syndrome.
Poling MI, Dufresne CR. Poling MI, et al. J Craniofac Surg. 2018 Nov;29(8):2176-2178. doi: 10.1097/SCS.0000000000004802. J Craniofac Surg. 2018. PMID: 30400128
While officially designated as distal arthrogryposis type 2A, the condition commonly referred to as Freeman-Sheldon syndrome (FSS) also historically has been termed craniocarpotarsal dystrophy, whistling face syndrome, and …
While officially designated as distal arthrogryposis type 2A, the condition commonly referred to as Freeman-Sheldon syndrom …
Novel ophthalmic features of Freeman-Sheldon syndrome.
Leung KCP, Ko TCS. Leung KCP, et al. J Fr Ophtalmol. 2021 May;44(5):e315-e316. doi: 10.1016/j.jfo.2020.08.012. Epub 2021 Feb 4. J Fr Ophtalmol. 2021. PMID: 33551110 No abstract available.
Periocular Anomalies in Freeman-Sheldon Syndrome.
Heinze K, Akella SS, Setabutr P. Heinze K, et al. Ophthalmic Plast Reconstr Surg. 2023 Jan-Feb 01;39(1):e28. doi: 10.1097/IOP.0000000000002207. Epub 2022 Jun 3. Ophthalmic Plast Reconstr Surg. 2023. PMID: 35657657 No abstract available.
Re: "Periocular Anomalies in Freeman-Sheldon Syndrome".
Poling MI, Dufresne CR. Poling MI, et al. Ophthalmic Plast Reconstr Surg. 2022 Nov-Dec 01;38(6):609-610. doi: 10.1097/IOP.0000000000002307. Epub 2021 Nov 4. Ophthalmic Plast Reconstr Surg. 2022. PMID: 36326430 No abstract available.
A case of blepharophimosis: Freeman Sheldon syndrome.
Bowman S, Noble G, Rahmani B, Mets M, Ralay Ranaivo H, Castelluccio V. Bowman S, et al. Ophthalmic Genet. 2022 Feb;43(1):130-133. doi: 10.1080/13816810.2021.1989603. Epub 2021 Oct 19. Ophthalmic Genet. 2022. PMID: 34664542
Although the mode of inheritance for Freeman Sheldon syndrome (formerly known as Whistling Face Syndrome) is often autosomal dominant, our patient had no known family history of congenital abnormalities or consanguinity. ...As is typical …
Although the mode of inheritance for Freeman Sheldon syndrome (formerly known as Whistling Face Syndro …
Anesthesia Challenges in the Management of Freeman-Sheldon Syndrome: Report of Two Cases and Literature Review.
Kamal G, Shah SB, Gupta A. Kamal G, et al. AANA J. 2020 Jan;88(1):35-38. AANA J. 2020. PMID: 32008616 Review.
Freeman-Sheldon syndrome is a congenital myopathy with a reported prevalence of less than 1 per 1 million. ...This report of the anesthetic management of 2 children with Freeman-Sheldon syndrome emphasizes the anesthetic considerations fo …
Freeman-Sheldon syndrome is a congenital myopathy with a reported prevalence of less than 1 per 1 million. ...This repo …
Reply Re: "Periocular Anomalies in Freeman-Sheldon Syndrome".
Heinze K, Akella SS, Setabutr P. Heinze K, et al. Ophthalmic Plast Reconstr Surg. 2022 Nov-Dec 01;38(6):610. doi: 10.1097/IOP.0000000000002306. Epub 2021 Nov 4. Ophthalmic Plast Reconstr Surg. 2022. PMID: 36326431 No abstract available.
35 results