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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.
Sheldon-Hall syndrome.
Toydemir RM, Bamshad MJ. Toydemir RM, et al. Orphanet J Rare Dis. 2009 Mar 23;4:11. doi: 10.1186/1750-1172-4-11. Orphanet J Rare Dis. 2009. PMID: 19309503 Free PMC article. Review.
Mutation analysis is useful to distinguish SHS from arthrogryposis syndromes with similar features (e.g. distal arthrogryposis 1 and Freeman-Sheldon syndrome). Prenatal diagnosis by ultrasonography is feasible at 18-24 weeks of gestation. ...
Mutation analysis is useful to distinguish SHS from arthrogryposis syndromes with similar features (e.g. distal arthrogryposis 1 and Free …
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.
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 for Freeman …
Although the mode of inheritance for Freeman Sheldon syndrome (formerly known as Whistling Face Syndrome) is often auto …
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. ...
Distal arthrogryposis (DA) syndromes are a group of disorders characterized by multiple congenital contractures. DA type 2A (DA2A or Free …
Freeman-Sheldon syndrome--prenatal and postnatal diagnosis.
Hegde SS, Shetty MS, Rama Murthy BS. Hegde SS, et al. Indian J Pediatr. 2010 Feb;77(2):196-7. doi: 10.1007/s12098-009-0227-6. Epub 2009 Dec 11. Indian J Pediatr. 2010. PMID: 20012803
There was congenital windmill vane hand position and severe talipes equinovarus deformity. The above features are characteristic of Freeman-Sheldon syndrome also known as Whistling Face syndrome. Ultrasound scanning during 8(th) month of the pregnancy showed …
There was congenital windmill vane hand position and severe talipes equinovarus deformity. The above features are characteristic of Freem …
Freeman-Sheldon syndrome: a dental perspective.
Bijumon; Johns DA. Bijumon, et al. J Indian Soc Pedod Prev Dent. 2013 Jul-Sep;31(3):184-7. doi: 10.4103/0970-4388.117978. J Indian Soc Pedod Prev Dent. 2013. PMID: 24021330
Freeman-Sheldon syndrome is a rare progressive myopathic disorder affecting the face, chest, and limbs. ...Patient as well as parental counseling is important in these cases. This case report presents a 7-year-old child with Freeman-Sheldon s …
Freeman-Sheldon syndrome is a rare progressive myopathic disorder affecting the face, chest, and limbs. ...Patient as w …
Freeman-Sheldon syndrome in a 29-year-old woman presenting with rare and previously undescribed features.
Chamberlain RL, Poling MI, Portillo AL, Morales A, Ramirez RR, McCormick RJ. Chamberlain RL, et al. BMJ Case Rep. 2015 Oct 22;2015:bcr2015212607. doi: 10.1136/bcr-2015-212607. BMJ Case Rep. 2015. PMID: 26494722 Free PMC article.
Described are previously unreported features presenting in a case of Freeman-Sheldon syndrome (FSS); these apparently unreported features may substantively inform current therapy and further research. ...
Described are previously unreported features presenting in a case of Freeman-Sheldon syndrome (FSS); these apparently u …
Prenatal diagnosis of Freeman-Sheldon syndrome and usefulness of an ultrasound fetal lip width normogram.
Vimercati A, Scioscia M, Burattini MG, Pontrelli G, Selvaggi LE. Vimercati A, et al. Prenat Diagn. 2006 Aug;26(8):679-83. doi: 10.1002/pd.1470. Prenat Diagn. 2006. PMID: 16715537
OBJECTIVES: Freeman-Sheldon syndrome (FSS) is a rare genetic condition with facial and joint abnormalities. ...
OBJECTIVES: Freeman-Sheldon syndrome (FSS) is a rare genetic condition with facial and joint abnormalities. ...
49 results