Please use this identifier to cite or link to this item: https://repositorio.unifesp.br/handle/11600/26166
Title: Blomstrand chondrodysplasia: a lethal sclerosing skeletal dysplasia - Case report and review
Authors: Galera, M. F.
Patricio, FRD
Lederman, H. M.
Porciuncula, CGG
Monlleo, I. L.
Brunoni, D.
Universidade Federal de São Paulo (UNIFESP)
Fed Univ Alagoas
Issue Date: 1-Nov-1999
Publisher: Springer
Citation: Pediatric Radiology. New York: Springer Verlag, v. 29, n. 11, p. 842-845, 1999.
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.
URI: http://repositorio.unifesp.br/handle/11600/26166
ISSN: 0301-0449
Other Identifiers: http://dx.doi.org/10.1007/s002470050709
Appears in Collections:Em verificação - Geral

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