title: Blomstrand osteochondrodysplasia: three novel cases and histological evidence for heterogeneity.
abstract: Blomstrand osteochondrodysplasia (BOCD) is a rare, autosomal recessive, lethal skeletal dysplasia characterized by generalized osteosclerosis and advanced skeletal maturation. The histopathological characteristics of three novel cases (two isolated cases and a sib-pair) of BOCD are presented and correlated with the clinical and radiographical findings, and the relevant literature is reviewed. The results of our study confirm the existence of two separate types of BOCD, which we propose naming type I: the severe, 'classical' form, and type II: a less severe form.
authors.affiliation: Department of Anatomy and Embryology, The Netherlands Academic Medical Center, University of Amsterdam, Meibergdreef 15, 1105 AZ, Amsterdam, The Netherlands. R.J.Oostra@amc.uva.nl
authors.forename: R J
authors.initials: RJ
authors.lastname: Oostra
authors.forename: J J
authors.initials: JJ
authors.lastname: van der Harten
authors.forename: W P
authors.initials: WP
authors.lastname: Rijnders
authors.forename: R J
authors.initials: RJ
authors.lastname: Scott
authors.forename: M P
authors.initials: MP
authors.lastname: Young
authors.forename: D
authors.initials: D
authors.lastname: Trump
mesh_terms: D000328:Adult; D015519:Bone Density; D003241:Consanguinity; D005260:Female; D005313:Fetal Death / Q000235:genetics; D005865:Gestational Age; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging / Q000235:genetics / Q000473:pathology*; D010026:Osteosclerosis / Q000235:genetics / Q000473:pathology; D011247:Pregnancy; D011859:Radiography