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De Barsy Syndrome: A Case Report of a Rare Genetic Disorder.
Srimeghana K, Dodda S, Sk A, Tango T, Dixit A, Sahu S. Srimeghana K, et al. Cureus. 2023 Jan 2;15(1):e33280. doi: 10.7759/cureus.33280. eCollection 2023 Jan. Cureus. 2023. PMID: 36741656 Free PMC article.
De Barsy syndrome (DBS) is an exceedingly rare autosomal recessively inherited genetic disorder that manifests as premature aging with progeroid features. ...There was a history of third-degree consanguineous parents in this patient. This patient was diagnose …
De Barsy syndrome (DBS) is an exceedingly rare autosomal recessively inherited genetic disorder that manifests as prema …
De Barsy syndrome: a review of the phenotype.
Kivuva EC, Parker MJ, Cohen MC, Wagner BE, Sobey G. Kivuva EC, et al. Clin Dysmorphol. 2008 Apr;17(2):99-107. doi: 10.1097/MCD.0b013e3282f4a964. Clin Dysmorphol. 2008. PMID: 18388779 Review.
De Barsy syndrome is a rare, autosomal recessive syndrome characterised by a progeria-like appearance with distinctive facial features and cutis laxa. ...To our knowledge there are no previous reports of de Barsy syndrome in individuals o …
De Barsy syndrome is a rare, autosomal recessive syndrome characterised by a progeria-like appearance with distinctive …
Clinical implications of de Barsy syndrome.
Warner LL, Olsen DA, Smith HM. Warner LL, et al. Paediatr Anaesth. 2018 Jan;28(1):59-62. doi: 10.1111/pan.13283. Epub 2017 Nov 17. Paediatr Anaesth. 2018. PMID: 29148179
BACKGROUND: De Barsy syndrome is a rare, autosomal recessive syndrome characterized by cutis laxa, progeroid appearance, ophthalmic opacification, skeletal malformations, growth delays, and intellectual disability. AIMS: The aim of this case series is to iden …
BACKGROUND: De Barsy syndrome is a rare, autosomal recessive syndrome characterized by cutis laxa, progeroid appearance …
The De Barsy syndrome.
Guerra D, Fornieri C, Bacchelli B, Lugli L, Torelli P, Balli F, Ferrari P. Guerra D, et al. J Cutan Pathol. 2004 Oct;31(9):616-24. doi: 10.1111/j.0303-6987.2004.00241.x. J Cutan Pathol. 2004. PMID: 15330994
METHODS: To improve the comprehension of the pathogenetic mechanisms involved in the De Barsy syndrome, we performed an ultrastructural, morphometric, immunocytochemical study on a skin biopsy of a boy with the De Barsy phenotype, who has been clinically foll …
METHODS: To improve the comprehension of the pathogenetic mechanisms involved in the De Barsy syndrome, we performed an …
De Barsy syndrome and ATP6V0A2-CDG.
Leao-Teles E, Quelhas D, Vilarinho L, Jaeken J. Leao-Teles E, et al. Eur J Hum Genet. 2010 May;18(5):526; author reply 526. doi: 10.1038/ejhg.2009.218. Epub 2009 Dec 16. Eur J Hum Genet. 2010. PMID: 20010974 Free PMC article. No abstract available.
Progeroid syndrome of De Barsy - a case report and review of ophthalmic literature.
Bhate M, Fernandes M, Senthil S, Bathula S, Beilur S. Bhate M, et al. Ophthalmic Genet. 2023 Oct;44(5):509-511. doi: 10.1080/13816810.2022.2154810. Epub 2022 Dec 16. Ophthalmic Genet. 2023. PMID: 36524384
Genetic testing confirmed a mutation in the PYCR1 gene for a homozygous autosomal recessive cutis laxa type IIB. CONCLUSIONS: Although rare, De Barsy syndrome is an important cause of corneal opacification at birth with multiple systemic abnormalities that re …
Genetic testing confirmed a mutation in the PYCR1 gene for a homozygous autosomal recessive cutis laxa type IIB. CONCLUSIONS: Although rare, …
De Barsy syndrome: report of a case, literature review, and elastin gene expression studies of the skin.
Karnes PS, Shamban AT, Olsen DR, Fazio MJ, Falk RE. Karnes PS, et al. Am J Med Genet. 1992 Jan 1;42(1):29-34. doi: 10.1002/ajmg.1320420108. Am J Med Genet. 1992. PMID: 1308362 Review.
Several "progeroid" syndromes have now been identified. The De Barsy syndrome is an autosomal recessive syndrome of dwarfism, mental deficiency, an "aged" appearance at birth, abnormal elastic fibers on skin biopsy, and lax skin, large helices, eye abnormalit …
Several "progeroid" syndromes have now been identified. The De Barsy syndrome is an autosomal recessive syndrome of dwa …
De Barsy syndrome.
Bartsocas CS, Dimitriou J, Kavadias A, Kyrzopoulos D. Bartsocas CS, et al. Prog Clin Biol Res. 1982;104:157-60. Prog Clin Biol Res. 1982. PMID: 7163260 No abstract available.
De Barsy syndrome--an autosomal recessive, progeroid syndrome.
Kunze J, Majewski F, Montgomery P, Hockey A, Karkut I, Riebel T. Kunze J, et al. Eur J Pediatr. 1985 Nov;144(4):348-54. doi: 10.1007/BF00441776. Eur J Pediatr. 1985. PMID: 4076251
We report two families with seven siblings with de Barsy syndrome. Characteristic features include severe mental retardation, hypermobility with athetoid movements, grimacing, muscular hypotonia, laxity of small joints and brisk deep tendon reflexes, progeroi …
We report two families with seven siblings with de Barsy syndrome. Characteristic features include severe mental retard …
31 results