title: Type 1 Arnold-Chiari malformation and Noonan syndrome. A new diagnostic feature?
abstract: 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.
authors.affiliation: Clinical Genetics Unit, Institute of Child Health, London, UK.
authors.forename: Muriel
authors.initials: M
authors.lastname: Holder-Espinasse
authors.forename: Robin M
authors.initials: RM
authors.lastname: Winter
mesh_terms: D001139:Arnold-Chiari Malformation / Q000145:classification / Q000473:pathology*; D002648:Child; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D009634:Noonan Syndrome / Q000145:classification / Q000473:pathology*