Type 1 Arnold-Chiari malformation and Noonan syndrome. A new diagnostic feature?
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.
Holder-Espinasse
Muriel
M
Clinical Genetics Unit, Institute of Child Health, London, UK.
Winter
Robin M
RM
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*