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Washington University Experience | DEVELOPMENTAL MALFORMATIONS | Encephalocele | 30B3 (Case 30) _20X EMH
The encephalocele showed foci of extramedullary hematopoiesis (H&E) ---- Not shown: The cerebellar hemispheres showed heterotopias and dysplasia and partial agenesis of the corpus callosum, absent in its most posterior aspect. ---- Comment: The decedent had two primary genetic abnormalities including deletion of a portion of 2q31.2 as well as a duplication of 22q11.2. The latter is associated with a wide range of phenotypic defects arising in individuals affected by this abnormality. These include reports of, among other abnormalities, frontomedial polymicrogyria, agenesis of the corpus callosum, septum pellucidum abnormalities and other cranial developmental problems.
