Rhizomelic chondrodysplasia punctata - Case report Condrodisplasia puntiforme forma rizomélica - Relato de caso

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dc.contributor.authorPascolat G.
dc.contributor.authorZindeluk J.L.
dc.contributor.authorAbrao K.C.
dc.contributor.authorRodrigues F.M.
dc.contributor.authorGuedes C.I.M.
dc.date.accessioned2024-03-13T01:46:12Z
dc.date.available2024-03-13T01:46:12Z
dc.date.issued2003
dc.description.abstractObjective: to report a case of rhizomelic chondrodysplasia punctata and present a brief literature review. Description: the authors report the case of a 52-day-old child presenting the main findings of the syndrome: rhizomelic micromelia, characteristic facies, suction difficulty and anthropometric measures below the expected indexes for his age. Skeletal radiographies showed humeri and femora shortening and calcifications stippling on shoulders, hips and knees joints. The patient also presented heart malformation, a less common manifestation of the syndrome. Comments: the rhizomelic form of chondrodysplasia punctata is rare, with only 72 cases reported until 1995. The prognosis is bad and death usually occurs within the first year of age. The case presented here was diagnosed based on clinical and radiological criteria, due to the impossibility of searching for the peculiar biochemical markers.
dc.description.firstpage189
dc.description.issuenumber2
dc.description.lastpage192
dc.description.volume79
dc.identifier.doi10.1590/s0021-75572003000200015
dc.identifier.issn0021-7557
dc.identifier.urihttps://dspace.mackenzie.br/handle/10899/37995
dc.relation.ispartofJornal de Pediatria
dc.rightsAcesso Aberto
dc.subject.otherlanguageChondrodysplasia punctata
dc.subject.otherlanguagePeroxisomal disorder
dc.subject.otherlanguageRhizomelic chondrodysplasia punctata
dc.titleRhizomelic chondrodysplasia punctata - Case report Condrodisplasia puntiforme forma rizomélica - Relato de caso
dc.typeArtigo
local.scopus.citations11
local.scopus.eid2-s2.0-0037910386
local.scopus.updated2024-05-01
local.scopus.urlhttps://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=0037910386&origin=inward
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