Aicardi Syndrome
Aicardi Syndrome 34
General: All symptoms present at birth; cause unknown; all findings progress with age; shows X-linked dominant inheritance.
Ocular: Microphthalmia; lid twitching; absent pupillary reflexes; round retinal lacunae up to disk size look like holes with retinal vessels crossing over them; funnel-shaped disk; chorioretinitis.
Clinical: Infantile spasms (tonic seizures in flexion); epileptic seizures; cyanosis; mental anomaly; vertebral anomalies; telangiectasia; hypotonia; head deformities with biparietal bossing, occipital flattening, and plagiocephaly; defects of corpus callosum; cortical heterotopia; characteristic electroencephalogram; dilated intracranial ventricle with leukomalacia.
Aicardi J, et al. Le Syndrome Spasmes en Flexion, Agenesie Calleuse, Anomalies Chorio-Retiniennes. Arch Fr Pediatr 1969; 26:1103.
Carney SH, et al. Aicardi syndrome: more than meets the eye. Surv Ophthalmol 1993; 37:419-424.
Font RL. Aicardi syndrome. A clinicopathologic case report including electron microscopic observations. Ophthalmology 1991; 98:1727-1731.
Gedik Y, et al. Aicardi syndrome: a variant example with new clinical findings. Genet Couns 1993; 4:281-283.
Geeraets WJ Ocular syndromes. 3rd ed. Philadelphia: Lea & Febiger, 1976.
General: All symptoms present at birth; cause unknown; all findings progress with age; shows X-linked dominant inheritance.
Ocular: Microphthalmia; lid twitching; absent pupillary reflexes; round retinal lacunae up to disk size look like holes with retinal vessels crossing over them; funnel-shaped disk; chorioretinitis.
Clinical: Infantile spasms (tonic seizures in flexion); epileptic seizures; cyanosis; mental anomaly; vertebral anomalies; telangiectasia; hypotonia; head deformities with biparietal bossing, occipital flattening, and plagiocephaly; defects of corpus callosum; cortical heterotopia; characteristic electroencephalogram; dilated intracranial ventricle with leukomalacia.
Aicardi J, et al. Le Syndrome Spasmes en Flexion, Agenesie Calleuse, Anomalies Chorio-Retiniennes. Arch Fr Pediatr 1969; 26:1103.
Carney SH, et al. Aicardi syndrome: more than meets the eye. Surv Ophthalmol 1993; 37:419-424.
Font RL. Aicardi syndrome. A clinicopathologic case report including electron microscopic observations. Ophthalmology 1991; 98:1727-1731.
Gedik Y, et al. Aicardi syndrome: a variant example with new clinical findings. Genet Couns 1993; 4:281-283.
Geeraets WJ Ocular syndromes. 3rd ed. Philadelphia: Lea & Febiger, 1976.
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