MRI Phenotyping Reveals Distinct Brain Malformations in OPHN1-Related Disorder

Systematic MRI phenotyping in OPHN1 disorder reveals a consistent constellation of cerebellar hypoplasia/dysfoliation, brainstem anomalies including anterior mesencephalic cap dysplasia, caudate hypoplasia, and frontal ventriculomegaly, expanding the recognized phenotype.

• Retrospective case series; number of patients not reported in source, likely small.
• DTI demonstrated aberrant white-matter tracts, supporting disrupted cerebrocerebellar connectivity and impaired axonal guidance.
• Limitation: sample size and selection bias unclear; findings require validation in larger cohorts.

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