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Indian Journal of Human Genetics
Medknow Publications on behalf of Indian Society of Human Genetics
ISSN: 0971-6866
EISSN: 0971-6866
Vol. 17, No. 3, 2011, pp. 226-228
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Bioline Code: hg11046
Full paper language: English
Document type: Case Report
Document available free of charge
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Indian Journal of Human Genetics, Vol. 17, No. 3, 2011, pp. 226-228
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Refractory seizures with global developmental delay: A rare cause
Vinoth, P N.; Chacko, Betty; Xavier Scott, J Julius. & , Venkatasai
Abstract
Aicardi syndrome is a genetic disorder characterized by the triad of infantile spasm in flexion, callosal agenesis and ocular abnormalities (chorioretinal lacunae, coloboma of optic disc). We report a typical case of Aicardi syndrome with all the classical features.
Keywords
Callosal agenesis, chorioretinal lacunae, coloboma, infantile spasm
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© Copyright 2011 Indian Journal of Human Genetics.
Alternative site location: http://www.ijhg.com/
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