期刊
VIRCHOWS ARCHIV
卷 436, 期 1, 页码 28-35出版社
SPRINGER
DOI: 10.1007/PL00008195
关键词
Blomstrand osteochondrodysplasia; bone density; clinical heterogeneity; histopathology; radiography
类别
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.
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