Weill-Marchesani syndrome in three generations

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dc.authorwosidEvereklioğlu, Cem/A-5370-2018
dc.contributor.authorEvereklioglu, C
dc.contributor.authorHepsen, IF
dc.contributor.authorEr, H
dc.date.accessioned2024-08-04T20:12:04Z
dc.date.available2024-08-04T20:12:04Z
dc.date.issued1999
dc.departmentİnönü Üniversitesien_US
dc.description.abstractBackground Weill-Marchesani syndrome is a rare systemic connective tissue disorder consisting of brachymorphy, brachydactyly, ectopia lentis, spherophakia and glaucoma. Methods We report 6 patients with Weill-Marchesani syndrome (with or without ocular involvement) in three generations, identified by screening 26 members of two families. This is the largest family in the literature showing an autosomal dominant pattern of inheritance. Results Presenile vitreous liquefaction was present in all the younger cases. Weill-Marchesani syndrome was full-blown in two cases in the third generation, in which asymmetrical axial length and glaucomatous damage were present. To our knowledge this is the first report regarding asymmetrical axial length and glaucomatous damage, and presenile vitreous liquefaction in Weill-Marchesani syndrome with or without ocular involvement. Conclusions The longer axial length might be the precursor of impending severe glaucomatous damage. Presenile vitreous liquefaction in subtle young cases should alert the physician to the diagnosis of Weill-Marchesani syndrome on screening of the family members.en_US
dc.identifier.doi10.1038/eye.1999.226
dc.identifier.endpage777en_US
dc.identifier.issn0950-222X
dc.identifier.pmid10707143en_US
dc.identifier.scopus2-s2.0-0033387766en_US
dc.identifier.scopusqualityQ1en_US
dc.identifier.startpage773en_US
dc.identifier.urihttps://doi.org/10.1038/eye.1999.226
dc.identifier.urihttps://hdl.handle.net/11616/93194
dc.identifier.volume13en_US
dc.identifier.wosWOS:000084897100016en_US
dc.identifier.wosqualityQ2en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherRoyal Coll Ophthalmologistsen_US
dc.relation.ispartofEyeen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectWeill-Marchesanien_US
dc.subjectdominanten_US
dc.subjectvitreous liquefactionen_US
dc.subjectglaucomaen_US
dc.titleWeill-Marchesani syndrome in three generationsen_US
dc.typeArticleen_US

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