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

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

Author 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
Institution Universidade Federal de São Paulo (UNIFESP)
Fed Univ Alagoas
Abstract 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.
Language English
Date 1999-11-01
Published in Pediatric Radiology. New York: Springer Verlag, v. 29, n. 11, p. 842-845, 1999.
ISSN 0301-0449 (Sherpa/Romeo, impact factor)
Publisher Springer
Extent 842-845
Origin http://dx.doi.org/10.1007/s002470050709
Access rights Closed access
Type Article
Web of Science ID WOS:000083537300012
URI http://repositorio.unifesp.br/handle/11600/26166

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