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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. WMS is characterised by specific ophthalmological abnormalities, although cardiovascular defects have also …
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. Both autosomal recessive (AR) a …
Weill-Marchesani syndrome (WMS) is a rare condition characterized by short stature, brachydactyly, joint stiffness, and …
Weill-Marchesani syndrome in three generations.
Evereklioglu C, Hepsen IF, Er H. Evereklioglu C, et al. Eye (Lond). 1999 Dec;13 ( Pt 6):773-7. doi: 10.1038/eye.1999.226. Eye (Lond). 1999. PMID: 10707143 Review.
BACKGROUND: Weill-Marchesani syndrome is a rare systemic connective tissue disorder consisting of brachymorphy, brachydactyly, ectopia lentis, spherophakia and glaucoma. ...Weill-Marchesani syndrome was full-blown in two cases in the thir …
BACKGROUND: Weill-Marchesani syndrome is a rare systemic connective tissue disorder consisting of brachymorphy, brachyd …
Elastic fibres in health and disease.
Baldwin AK, Simpson A, Steer R, Cain SA, Kielty CM. Baldwin AK, et al. Expert Rev Mol Med. 2013 Aug 20;15:e8. doi: 10.1017/erm.2013.9. Expert Rev Mol Med. 2013. PMID: 23962539 Review.
Severe heritable elastic fibre diseases are caused by mutations in elastic fibre components; for example, mutations in elastin cause supravalvular aortic stenosis and autosomal dominant cutis laxa, mutations in fibrillin-1 cause Marfan syndrome and Weill-M …
Severe heritable elastic fibre diseases are caused by mutations in elastic fibre components; for example, mutations in elastin cause suprava …
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. ...In contrast, a microspherophakic lens s …
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 …
Genetic and functional linkage between ADAMTS superfamily proteins and fibrillin-1: a novel mechanism influencing microfibril assembly and function.
Hubmacher D, Apte SS. Hubmacher D, et al. Cell Mol Life Sci. 2011 Oct;68(19):3137-48. doi: 10.1007/s00018-011-0780-9. Epub 2011 Aug 20. Cell Mol Life Sci. 2011. PMID: 21858451 Free PMC article. Review.
Microfibrils regulate bioavailability of TGFbeta superfamily growth factors and are structurally crucial in the ocular zonule. FBN1 mutations typically cause the Marfan syndrome, an autosomal dominant disorder manifesting with skeletal overgrowth, aortic aneurysm, a …
Microfibrils regulate bioavailability of TGFbeta superfamily growth factors and are structurally crucial in the ocular zonule. FBN1 mutation …
Cardiovascular characteristics in Marfan syndrome and their relation to the genotype.
De Backer J. De Backer J. Verh K Acad Geneeskd Belg. 2009;71(6):335-71. Verh K Acad Geneeskd Belg. 2009. PMID: 20232788 Review.
Marfan syndrome (MFS) is a systemic disorder of connective tissue with autosomal dominant inheritance. ...Third, patients with an 'atypical' MFS phenotype may show substantial clinical overlap with other connective tissue disorders such as Weill-Marchesani …
Marfan syndrome (MFS) is a systemic disorder of connective tissue with autosomal dominant inheritance. ...Third, patients with …
Skeletal manifestations of Marfan syndrome associated to heterozygous R2726W FBN1 variant: sibling case report and literature review.
Reyes-Hernández OD, Palacios-Reyes C, Chávez-Ocaña S, Cortés-Malagón EM, Alonso-Themann PG, Ramos-Cano V, Ramírez-Bello J, Sierra-Martínez M. Reyes-Hernández OD, et al. BMC Musculoskelet Disord. 2016 Feb 15;17:79. doi: 10.1186/s12891-016-0935-9. BMC Musculoskelet Disord. 2016. PMID: 26875674 Free PMC article. Review.
FBN1 variants are responsible for the related connective tissue disorders, grouped under the generic term of type-1 fibrillinopathies, which include Marfan syndrome (MFS), MASS syndrome (Mitral valve prolapse, Aortic enlargement, Skin and Skeletal findings, Acromicr …
FBN1 variants are responsible for the related connective tissue disorders, grouped under the generic term of type-1 fibrillinopathies, which …
Carpal tunnel syndrome in children.
Van Meir N, De Smet L. Van Meir N, et al. Acta Orthop Belg. 2003 Oct;69(5):387-95. Acta Orthop Belg. 2003. PMID: 14648946 Review.
Carpal tunnel syndrome (CTS) is rarely seen in children. A literature search in 1989 revealed 52 published cases. ...Melorrheostosis and Leri's syndrome have also been noted in children with CTS, as well as Dejerine-Sottas syndrome and Weill-Marches …
Carpal tunnel syndrome (CTS) is rarely seen in children. A literature search in 1989 revealed 52 published cases. ...Melorrheostosis …