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

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

Autor Galera, M. F. Google Scholar
Patricio, FRD Google Scholar
Lederman, H. M. Google Scholar
Porciuncula, CGG Google Scholar
Monlleo, I. L. Google Scholar
Brunoni, D. Google Scholar
Instituição Universidade Federal de São Paulo (UNIFESP)
Fed Univ Alagoas
Resumo We 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.
Idioma Inglês
Data 1999-11-01
Publicado em Pediatric Radiology. New York: Springer Verlag, v. 29, n. 11, p. 842-845, 1999.
ISSN 0301-0449 (Sherpa/Romeo, fator de impacto)
Editor Springer
Extensão 842-845
Fonte http://dx.doi.org/10.1007/s002470050709
Direito de acesso Acesso restrito
Tipo Artigo
Web of Science WOS:000083537300012
URI http://repositorio.unifesp.br/handle/11600/26166

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