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伴有明显颈椎管狭窄和脊髓受压的短指(趾)型点状软骨发育不良:两例报告

Brachytelephalangic chondrodysplasia punctata with marked cervical stenosis and cord compression: report of two cases.

作者信息

Herman Thomas E, Lee Benjamin C P, McAlister William H

机构信息

St. Louis Children's Hospital Department of Radiology, 510 South Kingshighway Blvd., St. Louis, MO 63110, USA.

出版信息

Pediatr Radiol. 2002 Jun;32(6):452-6. doi: 10.1007/s00247-001-0638-7. Epub 2002 Feb 2.

Abstract

Severe cervical spine stenosis with cord compression has not been well documented in brachytelephalangic chondrodysplasia punctata. We report two boys with phenotypic features of brachytelephalangic chondrodysplasia punctata who had severe cervical spine stenosis secondary to dysplastic cervical vertebrae, and discuss the significance of this association and its relation to the phenotypically similar Binder phenotype.

摘要

严重颈椎管狭窄伴脊髓受压在短指型点状软骨发育不良中尚无充分记录。我们报告了两名具有短指型点状软骨发育不良表型特征的男孩,他们因颈椎发育异常继发严重颈椎管狭窄,并讨论了这种关联的意义及其与表型相似的Binder 表型的关系。

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