| Literature DB >> 9450865 |
J A Thomas1, D L Rimoin, R S Lachman, W R Wilcox.
Abstract
Gracile bones are a frequent abnormality associated with fetal hypokinesia of any cause. With the exception of thin, undermineralized bones, the chondro-osseous structure is usually normal in these cases. We present a lethal skeletal dysplasia comprising minor anomalies, central nervous system abnormalities, gracile long bones, and abnormal chondro-osseous morphology. In addition to a short, disordered growth plate, the chondrocytes contained dilated loops of rough endoplasmic reticulum, suggesting an abnormality of an extracellular matrix protein. This protein appears to have effects on chondro-osseous and on facial and central nervous system development. We suggest the term "gracile bone dysplasia" to describe this disorder.Entities:
Mesh:
Year: 1998 PMID: 9450865
Source DB: PubMed Journal: Am J Med Genet ISSN: 0148-7299