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Aicardi syndrome: The importance of an ophthalmologist in its diagnosis
Aicardi syndrome is a rare genetic disorder. The salient features of this syndrome include agenesis of corpus callosum, chorioretinal lacunae and infantile spasms. Of these three, chorioretinal lacunae is the most constant feature present. This case highlights the importance of fundus findings by an...
Autores principales: | , , |
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Formato: | Texto |
Lenguaje: | English |
Publicado: |
Medknow Publications
2009
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2683450/ https://www.ncbi.nlm.nih.gov/pubmed/19384023 http://dx.doi.org/10.4103/0301-4738.49403 |
Sumario: | Aicardi syndrome is a rare genetic disorder. The salient features of this syndrome include agenesis of corpus callosum, chorioretinal lacunae and infantile spasms. Of these three, chorioretinal lacunae is the most constant feature present. This case highlights the importance of fundus findings by an ophthalmologist in making the diagnosis of this rare syndrome. |
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