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Findings, Phenotypes, Diagnostic Accuracy, and Treatment in Freeman-Burian Syndrome.
Poling MI, Dufresne CR, Chamberlain RL. Poling MI, et al. J Craniofac Surg. 2020 Jun;31(4):1063-1069. doi: 10.1097/SCS.0000000000006299. J Craniofac Surg. 2020. PMID: 32149971
Published manuscripts in PubMed, Google Scholar, and OMIM describing cases with a reported diagnosis of FBS, Sheldon-Hall syndrome, and distal arthrogryposes type 1 and 3 are initially included. Articles with sufficient case-level data for diagnosis verificat …
Published manuscripts in PubMed, Google Scholar, and OMIM describing cases with a reported diagnosis of FBS, Sheldon-Hall s …
Myosin heavy chain mutations that cause Freeman-Sheldon syndrome lead to muscle structural and functional defects in Drosophila.
Das S, Kumar P, Verma A, Maiti TK, Mathew SJ. Das S, et al. Dev Biol. 2019 May 15;449(2):90-98. doi: 10.1016/j.ydbio.2019.02.017. Epub 2019 Feb 28. Dev Biol. 2019. PMID: 30826400 Free PMC article.
Missense mutations in the MYH3 gene encoding myosin heavy chain-embryonic (MyHC-embryonic) have been reported to cause two skeletal muscle contracture syndromes, Freeman Sheldon Syndrome (FSS) and Sheldon Hall Syndrome (SHS). Two residues in MyHC-embryonic th …
Missense mutations in the MYH3 gene encoding myosin heavy chain-embryonic (MyHC-embryonic) have been reported to cause two skeletal muscle c …
A MYH3 mutation identified for the first time in a Chinese family with Sheldon-Hall syndrome (DA2B).
Xu Y, Kang QL, Zhang ZL. Xu Y, et al. Neuromuscul Disord. 2018 May;28(5):456-462. doi: 10.1016/j.nmd.2018.03.002. Epub 2018 Mar 8. Neuromuscul Disord. 2018. PMID: 29625835
Sheldon-Hall syndrome is the most common type of distal arthrogryposis syndromes, also known as distal arthrogryposis 2B (DA2B). Sheldon-Hall syndrome is caused by mutations in the TPM2, TNNI2, TNNT3 or MYH3 gene and characterized by ulna …
Sheldon-Hall syndrome is the most common type of distal arthrogryposis syndromes, also known as distal arthrogryposis 2 …
Bi-allelic variants in MYH3 cause recessively-inherited arthrogryposis.
Morali B, Miranda V, Raelson J, Grimard G, Glavas P, Audibert F, Dumont NA, Barone J, Bamshad M, Lemyre E, Campeau PM. Morali B, et al. Clin Genet. 2024 Oct;106(4):483-487. doi: 10.1111/cge.14570. Epub 2024 Jun 10. Clin Genet. 2024. PMID: 38856159
Heterozygous variants in MYH3 have been identified to cause the dominantly-inherited distal arthrogryposis conditions, Freeman-Sheldon syndrome, Sheldon-Hall syndrome, and multiple pterygium syndrome. In contrast, MYH3 variants underlie both dominantly …
Heterozygous variants in MYH3 have been identified to cause the dominantly-inherited distal arthrogryposis conditions, Freeman-Sheldon sy …
A novel pathogenic MYH3 mutation in a child with Sheldon-Hall syndrome and vertebral fusions.
Scala M, Accogli A, De Grandis E, Allegri A, Bagowski CP, Shoukier M, Maghnie M, Capra V. Scala M, et al. Am J Med Genet A. 2018 Mar;176(3):663-667. doi: 10.1002/ajmg.a.38593. Epub 2018 Jan 5. Am J Med Genet A. 2018. PMID: 29314551 Review.
Sheldon-Hall syndrome (SHS) is the most common of the distal arthrogryposes (DAs), a group of disorders characterized by congenital non-progressive contractures. ...
Sheldon-Hall syndrome (SHS) is the most common of the distal arthrogryposes (DAs), a group of disorders characterized b …
Identification of two novel MYH3 variants causing different phenotypes in prenatal diagnosis.
Yang Y, Zhang W, Wang H. Yang Y, et al. Prenat Diagn. 2023 Oct;43(11):1467-1471. doi: 10.1002/pd.6440. Epub 2023 Sep 13. Prenat Diagn. 2023. PMID: 37705160
The MYH3 variants are associated with distal arthrogryposis type 2A (Freeman-Sheldon syndrome), distal arthrogryposis type 2B3 (Sheldon-Hall syndrome), CPSFS1A (Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A) and CPSFS1B, which have some …
The MYH3 variants are associated with distal arthrogryposis type 2A (Freeman-Sheldon syndrome), distal arthrogryposis type 2B3 (Sheldon …