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: R J Oostra, J J van der Harten, W P Rijnders, R J Scott, M P Young, D Trump
• Journal: Virchows Archiv : an international journal of pathology (Virchows Arch) Vol. 436 Issue 1 Pg. 28-35 (Jan 2000) ISSN: 0945-6317 [Print] Germany
• PMID: 10664159 (Publication Type: Case Reports, Comparative Study, Journal Article, Review)

Topics

• Adult
• Bone Density
• Consanguinity
• Female
• Fetal Death (genetics)
• Gestational Age
• Humans
• Infant, Newborn
• Male
• Osteochondrodysplasias (diagnostic imaging, genetics, pathology)
• Osteosclerosis (genetics, pathology)
• Pregnancy
• Radiography