Type 1 Arnold-Chiari malformation and Noonan syndrome. A new diagnostic feature?

被引：31

作者：

Holder-Espinasse, M ^{[1
]}

Winter, RM ^{[1
]}

机构：

[1] Inst Child Hlth, Clin Genet Unit, London, England

来源：

CLINICAL DYSMORPHOLOGY | 2003年 / 12卷 / 04期

关键词：

Arnold-Chiari malformation; syringomelia;

D O I：

10.1097/00019605-200310000-00013

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Noonan syndrome is a clinically and genetically heterogeneous genetic condition. Arnold-Chiari malformation has been previously reported in three cases of Noonan syndrome. We describe a fourth case with this association. We suggest that brain and cervical spine MRI should be performed if neurological symptoms are present.

引用

页码：275 / 275

页数：1

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