Aicardi syndrome

(redirected from Agenesis of Corpus Callosum)

Ai·car·di syn·drome

(ă-kahr-dē'), [MIM*304050]
an X-linked dominant disorder with lethality in hemizygous males; characterized by agenesis of corpus collosum, chorioretinal abnormality with "holes," cleft lip with or without cleft palate, seizures, and characteristic EEG changes.

Aicardi Syndrome

An X-linked condition of early onset (before 5 months of age), which is characterised by seizures, spasms, mental retardation, muscular hypotonicity and lacunar retinal defects. The defect maps to the AIC locus on chromosome Xp22, in the region which encodes steroid sulfatase. It affects girls and boys with Klinefelter Syndrome.

Ai·car·di syn·drome

(ī-kahr'dē sin'drōm)
An X-linked dominant disorder with lethality in hemizygous males; characterized by agenesis of corpus callosum, chorioretinal abnormality with "holes," cleft lip with or without cleft palate, seizures, and characteristic EEG changes.

Aicardi,

Jean Dennis, French neurologist, 1924–.
Aicardi syndrome - agenesis of the corpus callosum with infantile spasms in female babies.

Ai·car·di syn·drome

(ī-kahr'dē sin'drōm) [MIM*304050]
X-linked dominant disorder lethal in hemizygous males; characterized by agenesis of cor-pus callosum, chorioretinal abnormality with "holes," cleft lip with or without cleft palate, seizures, and characteristic electroencephalographic changes.
References in periodicals archive ?
Kim Peek, who suffered from a condition similar to autism - Agenesis of Corpus Callosum - was thanked by Dustin Hoffman in his Best Actor acceptance speech, while film-writer Barry Morrow also acknowledged him.
Assessment and management of fetal agenesis of corpus callosum.
Partial agenesis of corpus callosum in spina bifida, meningomyelocele and potential compensatory mechanism.
NORMAL MRI: Compare with the patient's MRI, which demonstrates agenesis of corpus callosum (CC) and absence of septum pellucidum on coronal view (see on right).