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Agenesis of the corpus callosum (ACC) is a rare birth defect in which there is a complete or partial absence of the corpus callosum. It occurs when the development of the corpus callosum, the band of white matter connecting the two hemispheres in the brain , in the embryo is disrupted.
Andermann syndrome, also known as agenesis of corpus callosum with neuronopathy (ACCPN), Charlevoix disease and KCC3 axonopathy among other names, [1] is a very rare neurodegenerative genetic disorder that damages the nerves used to control muscles and related to sensation and is often associated with agenesis of the corpus callosum. [1] [2] [3 ...
X-linked complicated corpus callosum dysgenesis is a genetic disorder characterized by dysplasia, hypoplasia or agenesis of the corpus callosum alongside variable intellectual disability and spastic paraplegia. [2] Only 13 cases (all male) have been described in medical literature. [3] Transmission is X-linked recessive. [4]
This happens as a result of partial or complete absence of the corpus callosum. Corpus callosum is the band of white matter connecting the two cerebral hemispheres. The corpus callosum plays an extremely important role in interhemispheric communication, thus lack of or absence of these neural fibers results in a number of disabilities. [12]
Toriello–Carey syndrome is a genetic disorder that is characterized by Pierre Robin sequence and agenesis of the corpus callosum. [1] [2] Children with the disorder also possess a characteristic facial phenotype. [3]
Aicardi syndrome is a rare genetic malformation syndrome characterized by the partial or complete absence of a key structure in the brain called the corpus callosum, the presence of retinal lacunes, and epileptic seizures in the form of infantile spasms. [2] Other malformations of the brain and skeleton may also occur.
Agenesis of the corpus callosum that can either be complete or partial; Polysyndactyly, preaxial type; Hand/foot syndactyly; Pearl-white areas in the skin that are prone to scarring and suffer from atrophy; Eye, cheek, and limb hair growth abnormalities; Iris coloboma; Microphthalmia; Congenital short gut; Intestinal malrotation; Dysmotility ...
Her most cited articles include Agenesis of the corpus callosum: genetic, developmental and functional aspects of connectivity (2007), [25] Neuropilin-1 conveys semaphorin and VEGF signaling during neural and cardiovascular development (2003), [26] and De novo generation of neuronal cells from the adult mouse brain (1992). [27]