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- W4256336914 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. Am. J. Med. Genet. 75:95–100, 1998. © 1998 Wiley-Liss, Inc." @default.
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- W4256336914 date "1998-01-06" @default.
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- W4256336914 title "Gracile bone dysplasia" @default.
- W4256336914 doi "https://doi.org/10.1002/(sici)1096-8628(19980106)75:1<95::aid-ajmg19>3.3.co;2-i" @default.
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