Literature DB >> 9450865

Gracile bone dysplasia.

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.

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Year:  1998        PMID: 9450865

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  1 in total

Review 1.  The role of calcium-sensing receptor signaling in regulating transepithelial calcium transport.

Authors:  Rebecca Siu Ga Tan; Christy Hui Lin Lee; Henrik Dimke; R Todd Alexander
Journal:  Exp Biol Med (Maywood)       Date:  2021-04-29
  1 in total

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