Blomstrand chondrodysplasia: a lethal sclerosing skeletal dysplasia - Case report and review

dc.contributorUniversidade Federal de São Paulo (UNIFESP)
dc.contributorFed Univ Alagoas
dc.creatorGalera, M. F.
dc.creatorPatricio, FRD
dc.creatorLederman, H. M.
dc.creatorPorciuncula, CGG
dc.creatorMonlleo, I. L.
dc.creatorBrunoni, D.
dc.date.accessioned2016-01-24T12:30:54Z
dc.date.accessioned2023-09-04T18:26:57Z
dc.date.available2016-01-24T12:30:54Z
dc.date.available2023-09-04T18:26:57Z
dc.date.created2016-01-24T12:30:54Z
dc.date.issued1999-11-01
dc.identifierPediatric Radiology. New York: Springer Verlag, v. 29, n. 11, p. 842-845, 1999.
dc.identifier0301-0449
dc.identifierhttp://repositorio.unifesp.br/handle/11600/26166
dc.identifier10.1007/s002470050709
dc.identifierWOS:000083537300012
dc.identifier.urihttps://repositorioslatinoamericanos.uchile.cl/handle/2250/8614788
dc.description.abstractWe report a female stillborn with typical clinical, radiological, and anatomopathological features of Blomstrand chondrodysplasia. the main findings in this lethal osteochondrodysplasia are osteosclerosis and advanced skeletal maturation. Autosomal recessive inheritance has been proposed because of parental consanguinity of affected siblings in all reported cases, including this one. Histopathological study of the bones confirmed the advanced skeletal maturation radiological features. We also review this rare lethal osteochondrodysplasia.
dc.languageeng
dc.publisherSpringer
dc.relationPediatric Radiology
dc.rightshttp://www.springer.com/open+access/authors+rights?SGWID=0-176704-12-683201-0
dc.rightsAcesso restrito
dc.titleBlomstrand chondrodysplasia: a lethal sclerosing skeletal dysplasia - Case report and review
dc.typeArtigo


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