| Literature DB >> 10051170 |
A M Shah1, M F Smith, P D Griffiths, O W Quarrell.
Abstract
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.Entities:
Mesh：
Year: 1999 PMID： 10051170 DOI： 10.1002/(sici)1096-8628(19990212)82:4<344::aid-ajmg13>3.0.co;2-h
Source DB: PubMed Journal: Am J Med Genet ISSN： 0148-7299