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Schinzel-Giedion syndrome: Evidence for a neurodegenerative process

✍ Scribed by Shah, Ashish M.; Smith, Michael F.; Griffiths, Paul D.; Quarrell, Oliver W.J.

Publisher: John Wiley and Sons
Year: 1999
Tongue: English
Weight: 26 KB
Volume: 82
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19990212)82:4<344::aid-ajmg13>3.0.co;2-h

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✦ Synopsis

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 underlies this syndrome. However, results of detailed investigations for metabolic disorder were all normal.

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