施尼策尔-吉迪恩综合征：神经退行性变过程的证据

Schinzel-Giedion syndrome: evidence for a neurodegenerative process.

作者信息

Shah A M, Smith M F, Griffiths P D, Quarrell O W

机构信息

Ryegate Children's Centre, Sheffield Children's Hospital, United Kingdom.

出版信息

Am J Med Genet. 1999 Feb 12;82(4):344-7. doi: 10.1002/(sici)1096-8628(19990212)82:4<344::aid-ajmg13>3.0.co;2-h.

DOI:10.1002/(sici)1096-8628(19990212)82:4<344::aid-ajmg13>3.0.co;2-h

PMID:10051170

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.

摘要

我们报告了一例辛泽尔-吉迪恩综合征病例，其中系列脑部磁共振成像研究显示出进行性神经退行性过程。这些发现连同“粗糙”的面部外观和骨骼异常表明，一种进行性代谢缺陷是该综合征的基础。然而，代谢紊乱的详细检查结果均为正常。