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Brachytelephalangic chondrodysplasia punctata with severe spinal cord compression: report of four new cases

✍ Scribed by Arnaud Garnier; Stéphane Dauger; Danièle Eurin; Ida Parisi; Giancarlo Parenti; Catherine Garel; Katy Delbecque; Clarisse Baumann

Publisher
Springer
Year
2006
Tongue
English
Weight
166 KB
Volume
166
Category
Article
ISSN
0340-6997

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Chondrodysplasia punctata (CDP) is an etiologically heterogeneous condition, characterized by stippled epiphyses [Poznanski, 1994;Chitayat et al., 2008]. CDP can be found as a non-specific finding in chromosome abnormalities and lysosomal storage disorders (such as GM1 gangliosidosis, I-cell disease