Blomstrand osteochondrodysplasia: three novel cases and histological evidence for heterogeneity
Oostra, R. J. ; van der Harten, J.J. ; Rijnders, W. P. H. A. ; Scott, R. J. ; Young, M. P. A. ; Trump, D.
Springer
Published 2000
Springer
Published 2000
| ISSN: |
1432-2307
|
|---|---|
| Keywords: |
Key words Blomstrand osteochondrodysplasia ; Bone density ; Clinical heterogeneity ; Histopathology ; Radiography
|
| Source: |
Springer Online Journal Archives 1860-2000
|
| Topics: |
Medicine
|
| Notes: |
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.
|
| Type of Medium: |
Electronic Resource
|
| URL: |