bickers Adams Edwards syndrome
Bickers Adams Edwards syndrome is a rare x-linked disorder with profound intellectual disability, adducted thumb and large head which is comprising of a constellation of congenital CNS anomalies including :
- congenital aqueductal stenosis
- corpus callosum agenesis
- absence of the medullary pyramids
- corticospinal tracts agenesis
Genetic counseling is recommended due to high rate of disease in following pregnancies.
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Assoziationen und Differentialdiagnosen zu Bickers-Adams-Edwards syndrome:
