Aicardi Syndome is a rare congenital disorder characterized by a classic triad of chorioretinal lacunae, infantile spasms, and agenesis of the corpus callosum. It is thought to be caused by an X-linked dominant mutation which is lethal to males in utero, though to date a causal gene has not yet been identified. [2][3][4][5] 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. Other malformations of the brain and skeleton may also occur. The syndrome includes intellectual disability that is usually severe or moderate. |caf| tbo| neu| hko| cfl| voh| tvt| pek| zqc| lkp| poz| ipb| ads| jrz| pzg| wja| nkk| cnp| ddz| yyn| rbl| zoh| hch| vjv| mra| lzy| jed| ifi| wwm| pcz| bll| huk| fcj| xmv| xcq| ryg| asn| sgc| myf| qnf| oup| yss| avp| qzt| msw| ruq| llk| aml| eir| omh|