✦ LIBER ✦

Gracile bone dysplasia

✍ Scribed by Thomas, Janet A.; Rimoin, David L.; Lachman, Ralph S.; Wilcox, William R.

Publisher: John Wiley and Sons
Year: 1998
Tongue: English
Weight: 52 KB
Volume: 75
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19980106)75:1<95::aid-ajmg19>3.0.co;2-n

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✦ Synopsis

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. Am.

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