PMID: 15365465Sep 15, 2004Paper

Aicardi syndrome in a girl with mild developmental delay, absence of epilepsy and normal EEG.

Clinical Dysmorphology
Arpad MatlaryPetter Strømme

Abstract

We report a 6-year-old girl with corpus callosum agenesis and other cerebral malformations, scoliosis and hypopigmented chorioretinal lacunae in both fundi typical of Aicardi syndrome. She has never had epilepsy and the EEG has always been normal, observations not reported previously in Aicardi syndrome. She was mildly mentally retarded with a full scale IQ of 61. The patient exhibited an unusually mild Aicardi syndrome phenotype.

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Citations

Jan 15, 2013·Developmental Neuropsychology·Vanessa SiffrediMegan M Spencer-Smith
Mar 11, 2008·Epilepsia·Alexis Arzimanoglou
Aug 21, 2013·Child's Nervous System : ChNS : Official Journal of the International Society for Pediatric Neurosurgery·Aimen S KasasbehMatthew D Smyth
Jan 9, 2007·Brain & Development·S GrossoP Balestri
Nov 7, 2006·Brain & Development·S GrossoP Balestri
Oct 18, 2008·American Journal of Medical Genetics. Part a·Bobbi HopkinsGary Clark
Jul 11, 2007·Journal of Child Neurology·Margaret A K GlasmacherIgnatia B Van den Veyver
Jun 24, 2017·Epilepsy & Behavior : E&B·Mia TuftCaroline Lund
Dec 12, 2018·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Bibiana K Y Wong, V Reid Sutton
Sep 15, 2005·American Journal of Medical Genetics. Part a·V Reid SuttonIgnatia B Van den Veyver

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