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Schinzel–Giedion syndrome: a further cause of West syndrome

✍ Scribed by Salvatore Grosso; Caterina Pagano; Maddalena Cioni; Rosanna Maria Di Bartolo; Guido Morgese; Paolo Balestri

Book ID
114248951
Publisher
Elsevier Science
Year
2003
Tongue
English
Weight
228 KB
Volume
25
Category
Article
ISSN
0387-7604

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We report on a case of Schinzel-Giedion syndrome in which serial magnetic resonance (MR) brain-imaging studies demonstrated a progressive neurodegenerative process. These findings in addition to ''coarse'' facial appearance and skeletal abnormality suggest that a progressive metabolic defect underli