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 ?
Foetal Magnetic Resonance Imaging (MRI) was recommended to rule out agenesis of corpus callosum.
Patients should be assessed for possible microcephaly, ventriculomegaly, agenesis of corpus callosum, hypoplasia of cerebellum, and skeletal deformities.
Third group was of congenital malformations which include pachygyria, holoprosencephaly, dandy walker variant, hydrocephalus and agenesis of corpus callosum.
The following structures were analyzed: size of lateral ventricles, loss of white matter, corpus callosum, thinning of corpus callosum, agenesis of corpus callosum, cerebellum, brain stem, and abnormalities of cortical gray matter.
1,6 These lesions are frequently associated with hypogenesis or agenesis of corpus callosum.
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.
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).
There were 3 more cases, each afflicted from partial agenesis of corpus callosum, granuloma and associated myelomeningocele respectively.
Among foetal CNS anomalies are ventriculomegaly (VM) (Figure-1) agenesis of corpus callosum (ACC) holoprosencephaly microcephaly Dandy Walker malformation (DWM) anencephaly (Figure-2) encephalocele and Spina Bifida (SB) (Figure-3).
2) leading to reciprocal fusion transcripts in a patient with intellectual disability and agenesis of corpus callosum.