Presentation
Child patient presented with hypotonia and delayed milestones/developmental delay.
Patient Data
Age: 2 years
From the case:
Syntelencephaly
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The lateral ventricles appear dysmorphic with absent septum pellucidum.
Case Discussion
As in this case cerebellar hypoplasia and azygos anterior cerebral artery are well known associations, other associations: Chiari I malformation, dorsal cyst of holoprosencephaly, and polymicrogyria.
Genetic assessment may be indicated to exclude mutations such as ZIC2 mutation at 13q32 (which is seen in 5-6% of cases).