PMID: 9450865Feb 5, 1998Paper

Gracile bone dysplasia

American Journal of Medical Genetics
J A ThomasW 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.

Citations

Oct 30, 2004·Journal of Obstetrics and Gynaecology : the Journal of the Institute of Obstetrics and Gynaecology·O OsobaU Krishnamoorthy
Nov 14, 2008·American Journal of Medical Genetics. Part a·Jessica L NyholmBrian C Brost

❮ Previous
Next ❯

Related Concepts

Related Feeds

Absence Epilepsy

Absence epilepsy is a common seizure disorder in children which can produce chronic psychosocial sequelae. Discover the latest research on absence epilepsies here.