Rhizomelic chondrodysplasia punctata: A case report

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dc.authorscopusid55949619900
dc.authorscopusid6507807766
dc.authorscopusid6701859321
dc.contributor.authorGülcan H.
dc.contributor.authorKeleş F.
dc.contributor.authorSi?irci A.
dc.date.accessioned2024-08-04T19:59:05Z
dc.date.available2024-08-04T19:59:05Z
dc.date.issued2004
dc.departmentİnönü Üniversitesien_US
dc.description.abstractRhizomelic chondrodysplasia punctata is an autosomal recessive disorder characterized by stippled epiphyses, rhizomelic shortening of the long bones, flexion contractures, saddle nose, hypertelorism, cataract, frontal bossing, and severe mental and motor retardation. This type is the most severe and rare form of chondrodysplasia punctata. We present a newborn who manifested the characteristic clinical and radiologic findings of rhizomelic type chondrodysplasia punctata.en_US
dc.identifier.endpage59en_US
dc.identifier.issn0010-0161
dc.identifier.issue1en_US
dc.identifier.scopus2-s2.0-1542514932en_US
dc.identifier.scopusqualityQ4en_US
dc.identifier.startpage57en_US
dc.identifier.urihttps://hdl.handle.net/11616/90373
dc.identifier.volume47en_US
dc.indekslendigikaynakScopusen_US
dc.language.isotren_US
dc.relation.ispartofCocuk Sagligi ve Hastaliklari Dergisien_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectCataracten_US
dc.subjectChondrodysplasia punctataen_US
dc.subjectRhizomelic chondrodysplasia punctataen_US
dc.titleRhizomelic chondrodysplasia punctata: A case reporten_US
dc.title.alternativeRizomelik kondrodisplazi punktata: Bir vaka takdimien_US
dc.typeArticleen_US

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