title: Blomstrand chondrodysplasia: a lethal sclerosing skeletal dysplasia. Case report and review.
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.
authors.affiliation: Discipline of Genetics, Department of Morphology, Universidade Federal de Saão Paulo, Rua Botucatu, 740, Vila Clementino, CEP 04023-900 Saão Paulo, SP, Brazil.
authors.forename: M F
authors.initials: MF
authors.lastname: Galera
authors.forename: F R
authors.initials: FR
authors.lastname: de Silva Patrício
authors.forename: H M
authors.initials: HM
authors.lastname: Lederman
authors.forename: C G
authors.initials: CG
authors.lastname: Porciúncula
authors.forename: I
authors.initials: I
authors.lastname: Lopes Monlleo
authors.forename: D
authors.initials: D
authors.lastname: Brunoni
mesh_terms: D000328:Adult; D003241:Consanguinity; D005260:Female; D005313:Fetal Death / Q000235:genetics; D005804:Genes, Lethal; D005808:Genes, Recessive; D006801:Humans; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D010026:Osteosclerosis / Q000235:genetics; D010375:Pedigree; D011247:Pregnancy; D011859:Radiography