Unveiling Neuroimaging Patterns and Genotype-Phenotype Links in Noonan Syndrome: Insights from a Multicenter Cohort

Structural brain abnormalities were identified in 84.7% of children with genetically confirmed Noonan syndrome (NS), predominantly midbrain-hindbrain malformations, corpus callosum anomalies, and cortical malformations.
Neuroimaging findings showed significant genotype-phenotype correlations, especially with PTPN11 variants, which comprised the majority of cases.
Neurological manifestations such as seizures and developmental delay were strongly associated with specific brain abnormalities including cortical tumors, callosal anomalies, and microcephaly.
Longitudinal MRI revealed progressive changes in brain lesions and cranio-cervical anomalies, emphasizing the need for ongoing neuroimaging surveillance in selected patients.

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Structural brain abnormalities were identified in 84.7% of children with genetically confirmed Noonan syndrome (NS), predominantly midbrain-hindbrain malformations, corpus callosum anomalies, and cortical malformations.
Neuroimaging findings showed significant genotype-phenotype correlations, especially with PTPN11 variants, which comprised the majority of cases.
Neurological manifestations such as seizures and developmental delay were strongly associated with specific brain abnormalities including cortical tumors, callosal anomalies, and microcephaly.
Longitudinal MRI revealed progressive changes in brain lesions and cranio-cervical anomalies, emphasizing the need for ongoing neuroimaging surveillance in selected patients.

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