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PDHA1 and OPHN1 mutations. A and B, PDHA1 mutation. Case 20 at 23 weeks 3 days' gestation. PDHA1 mutation. Agenesis of the corpus callosum with the anterior commissure present (short arrow), cavitated enlarged GEs, and anterior temporal pole subependymal pseudocysts (germinolytic cysts) (long arrows). C and D, Case 21 at 29 weeks. OPHN1 mutation with mild ventriculomegaly (11 mm) and bilaterally enlarged GEs.
