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Type 1 Arnold-Chiari malformation and Noonan syndrome. A new diagnostic feature?
Muriel Holder-Espinasse1, Robin M Winter
1Clinical Genetics Unit, Institute of Child Health, London, UK.
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.
Insights
Noonan syndrome, a genetic disorder, can be associated with Arnold-Chiari malformation. This case report details a fourth instance, suggesting MRI for neurological symptoms.
Area of Science:
- Genetics
- Neurology
- Pediatrics
Background:
- Noonan syndrome is a complex genetic disorder with diverse clinical presentations.
- Previous literature documents a rare association between Noonan syndrome and Arnold-Chiari malformation in three patients.
Observation:
- This report presents a fourth confirmed case of Arnold-Chiari malformation occurring in an individual with Noonan syndrome.
- The patient's specific clinical details and diagnostic process are outlined.
Findings:
- The co-occurrence of Noonan syndrome and Arnold-Chiari malformation is confirmed in this additional case.
- This finding reinforces the potential link between these two conditions.
Implications:
- Consider brain and cervical spine MRI for patients with Noonan syndrome exhibiting neurological symptoms.
- Further research may elucidate the underlying mechanisms connecting these conditions.
