先天性多发性关节挛缩症合并无脑回畸形：一例报告

Arthrogryposis multiplex congenita associated with lissencephaly: a case report.

作者信息

Massa G, Casaer P, Ceulemans B, Van Eldere S

机构信息

Department of Pediatrics, University Hospital Gasthuisberg, Leuven, Belgium.

出版信息

Neuropediatrics. 1988 Feb;19(1):24-6. doi: 10.1055/s-2008-1052396.

DOI:10.1055/s-2008-1052396

PMID:3362309

Abstract

A child with arthrogryposis multiplex congenita and microcephaly is described. Cranial CT-scan and MRI showed abnormalities consistent with type I lissencephaly. The lissencephaly seems to be the primary cause of the congential contractures. Lissencephaly associated with arthrogryposis multiplex congenita has to be considered as a special kind of lissencephaly syndrome.

摘要

本文描述了一名患有先天性多发性关节挛缩症和小头畸形的儿童。头颅CT扫描和MRI显示出与I型无脑回畸形相符的异常。无脑回畸形似乎是先天性挛缩的主要原因。与先天性多发性关节挛缩症相关的无脑回畸形必须被视为一种特殊类型的无脑回畸形综合征。