Holder-Espinasse Muriel, Winter Robin M
Clinical Genetics Unit, Institute of Child Health, London, UK.
Clin Dysmorphol. 2003 Oct;12(4):275. doi: 10.1097/00019605-200310000-00013.
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.
努南综合征是一种临床和基因异质性的遗传疾病。此前已有三例努南综合征患者被报道合并阿诺德-奇亚里畸形。我们描述了第四例有此关联的病例。我们建议，如果出现神经症状，应进行脑部和颈椎的磁共振成像检查。
