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Weill-Marchesani syndrome: natural history and genotype-phenotype correlations from 18 news cases and review of literature.
Marzin P, Rondeau S, Alessandri JL, Dieterich K, le Goff C, Mahaut C, Mercier S, Michot C, Moldovan O, Miolo G, Rossi M, Van-Gils J, Francannet C, Robert MP, Jaïs JP, Huber C, Cormier-Daire V. Marzin P, et al. J Med Genet. 2024 Jan 19;61(2):109-116. doi: 10.1136/jmg-2023-109288. J Med Genet. 2024. PMID: 37734846 Review.
BACKGROUND: Weill-Marchesani syndrome (WMS) belongs to the group of acromelic dysplasias, defined by short stature, brachydactyly and joint limitations. ...
BACKGROUND: Weill-Marchesani syndrome (WMS) belongs to the group of acromelic dysplasias, defined by short stature, bra …
Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndrome.
Faivre L, Dollfus H, Lyonnet S, Alembik Y, Mégarbané A, Samples J, Gorlin RJ, Alswaid A, Feingold J, Le Merrer M, Munnich A, Cormier-Daire V. Faivre L, et al. Am J Med Genet A. 2003 Dec 1;123A(2):204-7. doi: 10.1002/ajmg.a.20289. Am J Med Genet A. 2003. PMID: 14598350 Review.
Weill-Marchesani syndrome (WMS) is a rare condition characterized by short stature, brachydactyly, joint stiffness, and characteristic eye abnormalities including microspherophakia, ectopia of lens, severe myopia, and glaucoma. ...
Weill-Marchesani syndrome (WMS) is a rare condition characterized by short stature, brachydactyly, joint stiffness, and …
Biometric and corneal topographic characteristics in patients with Weill-Marchesani syndrome.
Razeghinejad MR, Hosseini H, Namazi N. Razeghinejad MR, et al. J Cataract Refract Surg. 2009 Jun;35(6):1026-32. doi: 10.1016/j.jcrs.2009.01.029. J Cataract Refract Surg. 2009. PMID: 19465288
PURPOSE: To determine the biometry of ocular structures and corneal topographic characteristics in patients with Weill-Marchesani syndrome. SETTING: Department of Ophthalmology, Shiraz University of Medical Sciences, Shiraz, Iran. METHODS: Patients with We …
PURPOSE: To determine the biometry of ocular structures and corneal topographic characteristics in patients with Weill-Marchesani …
Similarity of geleophysic dysplasia and Weill-Marchesani syndrome.
Kochhar A, Kirmani S, Cetta F, Younge B, Hyland JC, Michels V. Kochhar A, et al. Am J Med Genet A. 2013 Dec;161A(12):3130-2. doi: 10.1002/ajmg.a.36147. Epub 2013 Sep 24. Am J Med Genet A. 2013. PMID: 24214363
The acromelic dysplasias comprise short stature, hands and feet, and stiff joints. Three disorders are ascribed to this group, namely Weill-Marchesani syndrome, geleophysic dysplasia, and acromicric dysplasia, although similar in phenotype, can be distinguish …
The acromelic dysplasias comprise short stature, hands and feet, and stiff joints. Three disorders are ascribed to this group, namely Wei …
Cervical artery dissection expands the cardiovascular phenotype in FBN1-related Weill-Marchesani syndrome.
Newell K, Smith W, Ghoshhajra B, Isselbacher E, Lin A, Lindsay ME. Newell K, et al. Am J Med Genet A. 2017 Sep;173(9):2551-2556. doi: 10.1002/ajmg.a.38353. Epub 2017 Jul 11. Am J Med Genet A. 2017. PMID: 28696036
Weill-Marchesani syndrome (WMS) is a rare form of acromelic dysplasia that is characterized by distinctive skeletal, ocular, and cardiovascular abnormalities. ...
Weill-Marchesani syndrome (WMS) is a rare form of acromelic dysplasia that is characterized by distinctive skeletal, oc …
Angle closure in younger patients.
Ritch R, Chang BM, Liebmann JM. Ritch R, et al. Ophthalmology. 2003 Oct;110(10):1880-9. doi: 10.1016/S0161-6420(03)00563-3. Ophthalmology. 2003. PMID: 14522758 Review.
Diagnoses included plateau iris syndrome (35 patients); iridociliary cysts (8 patients); retinopathy of prematurity (7 patients); uveitis (5 patients); isolated nanophthalmos (3 patients); relative pupillary block (2 patients); Weill-Marchesani syndrome (3 pa …
Diagnoses included plateau iris syndrome (35 patients); iridociliary cysts (8 patients); retinopathy of prematurity (7 patients); uveitis (5 …
The Weill-Marchesani syndrome: report of two cases and a review.
Haik GM Sr, Terrell WL 3rd, Haik GM Jr. Haik GM Sr, et al. J La State Med Soc. 1990 Dec;142(12):25-8, 30-2. J La State Med Soc. 1990. PMID: 2277226 Review.
Two cases of the Weill-Marchesani syndrome are reported. The diagnosis very likely is being missed in some cases in which the skeletal abnormalities are minor and the patients are not referred for systemic examination. ...
Two cases of the Weill-Marchesani syndrome are reported. The diagnosis very likely is being missed in some cases in whi …
Genetic and molecular aspects of acromelic dysplasia.
Le Goff C, Cormier-Daire V. Le Goff C, et al. Pediatr Endocrinol Rev. 2009 Mar;6(3):418-23. Pediatr Endocrinol Rev. 2009. PMID: 19396027 Review.
The acromelic dysplasia group includes three rare disorders: Weill-Marchesani syndrome (WMS), Geleophysic dysplasia (GD) and Acromicric dysplasia (AD) all characterized by short stature, short hands and stiff joints. ...
The acromelic dysplasia group includes three rare disorders: Weill-Marchesani syndrome (WMS), Geleophysic dysplasia (GD …
From tall to short: the role of TGFβ signaling in growth and its disorders.
Le Goff C, Cormier-Daire V. Le Goff C, et al. Am J Med Genet C Semin Med Genet. 2012 Aug 15;160C(3):145-53. doi: 10.1002/ajmg.c.31337. Epub 2012 Jul 12. Am J Med Genet C Semin Med Genet. 2012. PMID: 22791552 Review.
The acromelic dysplasia group is characterized by short stature, short hands and feet, stiff joint, and "muscular" build. Four disorders can now be ascribed to this group, namely Weill-Marchesani syndrome (WMS), geleophysic dysplasia (GD), acromicric dysplasi …
The acromelic dysplasia group is characterized by short stature, short hands and feet, stiff joint, and "muscular" build. Four disorders can …
Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia.
McInerney-Leo AM, Le Goff C, Leo PJ, Kenna TJ, Keith P, Harris JE, Steer R, Bole-Feysot C, Nitschke P, Kielty C, Brown MA, Zankl A, Duncan EL, Cormier-Daire V. McInerney-Leo AM, et al. J Med Genet. 2016 Jul;53(7):457-64. doi: 10.1136/jmedgenet-2015-103647. Epub 2016 Apr 11. J Med Genet. 2016. PMID: 27068007
BACKGROUND: Acromelic dysplasias are a group of disorders characterised by short stature, brachydactyly, limited joint extension and thickened skin and comprises acromicric dysplasia (AD), geleophysic dysplasia (GD), Myhre syndrome and Weill-Marchesani syndrome …
BACKGROUND: Acromelic dysplasias are a group of disorders characterised by short stature, brachydactyly, limited joint extension and thicken …
30 results