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Aicardi Syndrome: more detail

Aicardi Syndrome - A Medical Dictionary, Bibliography, and Annotated Research Guide to Internet References by ICON Health Publications, 2004-08-23
The Official Parent's Sourcebook on Aicardi Syndrome: A Directory for the Internet Age by Icon Health Publications, 2003-11
Aicardi syndrome: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Paul Johnson, 2005

lists with details

Aicardi Syndrome
aicardi syndrome Foundation Short description of cell lines. Pathology aicardi syndrome (corpus callosum) Aicardi Support Groups aicardi syndrome
http://www.bdid.com/aicardi.htm
Aicardi Syndrome Medical Information
aicardi syndrome Information from Drugs.com. aicardi syndrome is a rare genetic disorder characterized by infantile spasms (jerking), absence of the
http://www.drugs.com/enc/aicardi_syndrome.html

Extractions: Advanced Search Or click the first letter of a drug name: A B C D ... Z Injury Disease Nutrition Poison ... Corpus callosum of the brain Aicardi syndrome is a rare genetic disorder characterized by infantile spasms (jerking), absence of the corpus callosum (the connection between the two hemispheres of the brain), mental retardation, and lesions of the retina of the eye or optic nerve. Causes The cause of Aicardi syndrome is unknown at this time, but is presumed to be a genetic disorder carried on the X-chromosome in some cases and a random, sporadic mutation in others. There are less than 500 cases of Aicardi worldwide. Children are most commonly diagnosed with Aicardi Syndrome between the ages of three months and five months, if they meet the following criteria:
Aicardi Syndrome - Wikipedia, The Free Encyclopedia
aicardi syndrome is a congenital disorder thought to result from an Children are most commonly identified with aicardi syndrome between the ages of
http://en.wikipedia.org/wiki/Aicardi_syndrome

Extractions: Over US$225,000 has been donated since the drive began on 19 August. Thank you for your generosity! Aicardi syndrome is a congenital disorder thought to result from an abnormality of the X chromosome and characterized by absence of the corpus callosum , retinal abnormalities, and seizures (often infantile spasms). edit It was first described by Jean Aicardi , a french neurologist in 1965. edit There are about 500 cases worldwide, almost all of them in females, because it is thought to be lethal in otherwise genetically normal males. It has been identified in males with Klinefelter syndrome , who have an extra X chromosome. edit edit Children are most commonly identified with Aicardi Syndrome between the ages of three and five months. A significant number of these girls are products of normal births and seem to be developing normally until around the age of three months, when they begin to have infantile spasms. The onset of infantile spasms at this age is due to closure of the final neural synapses in the brain, a stage of normal brain development. Prognosis varies widely, though all experience developmental delays of some degree, typically moderate to severe mental retardation.
Aicardi Syndrome, Agenesis Of Corpus Callosum-Chorioretinitis
aicardi syndrome, Agenesis of Corpus CallosumChorioretinitis Abnormality, Agenesis of Corpus Callosum-Infantile Spasms-Ocular Anomalies, Callosal Agenesis
http://www.icomm.ca/geneinfo/aicardi.htm
Aicardi Syndrome
aicardi syndrome. What is aicardi syndrome? aicardi syndrome is a rare disorder characterized aicardi syndrome Newsletter, Inc. 1510 Polo Fields Court
http://www.clevelandclinic.org/health/health-info/docs/1200/1244.asp?index=6028&
Show-documents.asp
aicardi syndrome Written Information. Care Treatment. aicardi syndrome New Search Contact Us Disclaimer Send this link Help Site Map
http://www.clevelandclinic.org/health/search/do-query.asp?TopicId=1271
The Vest™ Airway Clearance System - Airway Clearance Indications Of Aicard
Airway Clearance Indications of aicardi syndrome. Print Version. aicardi syndrome is a very rare congenital condition characterized by failure of the corpus
http://www.thevest.com/conditions/factsheets/aicardi.asp?gs=patients
Indian Pediatrics -Case Reports
Seizures in aicardi syndrome generally start early in life and have always been A characteristic EEG pattern is found in all cases of aicardi syndrome,
http://www.indianpediatrics.net/june2000/june-673-676.htm

Extractions: Revision Accepted: January 5, 2000 Aicardi et al . in 1965 described 8 cases with a triad of spasm in flexion, callosal agenesis and ocular abnormalities(1). This clinical syndrome now includes other features like vertebral anomalies, cortical heterotopias, hypotonia, mental subnormality, poor life expectancy, characteristic electrophysiological and radiological abnormalities(2). This disorder has been observed usually in females with the exception of two male infants(3). We report a typical case of Aicardi syndrome with Dandy walker malformation which is an unusual, association. Case Report A 7-month-old girl presented to us with infantile spasm since the age of two months. She was born by an uncomplicated normal vaginal delivery at term to a primigravida mother. The parents were non-consanguineous and there was no significant antenatal illness. The symptoms started initially with myoclonic jerks and occasional generalized tonic clonic convulsions. Her examination revealed marked hypotonia, micro-ophthalmia of right eye, microcephaly (
Indian Pediatrics - Editorial
Aicardis Syndrome in a Male Child An Unusual Presentation. KC Aggarwal Curatolo P, Libutti G, Dallapiccula B. aicardi syndrome in a male infant.
http://www.indianpediatrics.net/may2000/may-542-545.htm

Extractions: Revision Accepted: November 19, 1999 In 1965, Aicardi and colleagues reported a new syndrome characterized by agenesis of corpus callosum (ACC) with cortical heterotopia, infantile spasm, chorioretinopathy, mental retardation with or without associated vertebral anomalies. Amongst these, ACC, infantile spasms, mental retardation and chorioretinal lacunae are the constant findings(1). It is a rare neuro-ophthalmic disorder with progressive mental deterioration. All the patients described till date have been females except two male subjects(2,3). We describe a male baby who had all the essential features suggestive of Aicardis Syndrome along with ventricular septal defect and lissencephaly.
Aicardi Syndrome
aicardi syndrome is an extremely rare congenital disorder in which the structure linking the two cerebral
http://my.webmd.com/hw/raising_a_family/nord49.asp

Extractions: Aicardi Syndrome is an extremely rare congenital disorder in which the structure linking the two cerebral hemispheres of the brain (corpus callosum) fails to develop. The absence of the corpus callosum is associated with frequent seizures, marked abnormalities of the retina and choroid (the thin membrane that covers the retina) of the eyes, and/or mental retardation.
Short Description Of Cell Lines. Pathology: Aicardi Syndrome / Corpus Callosum *
Pathology aicardi syndrome / corpus callosum *304050 OMIM record. By selecting the cell line name, you will receive the detailed description of the cell
http://www.biotech.ist.unige.it/cldb/pat42.html
Genetic Studies In X-linked Dominant Aicardi Syndrome - MRDDRC Projects
Genetic studies in Xlinked dominant aicardi syndrome. The search for genes mutated in X-linked dominant sporadic disorders is challenging because
http://mrrc.pedi.bcm.tmc.edu/projects/xlinkedaicardi.html

Extractions: Genetic studies in X-linked dominant Aicardi syndrome The search for genes mutated in X-linked dominant sporadic disorders is challenging because positional cloning strategies, requiring the study of families with multiple affected individuals, are not possible. Currently, functional candidate-gene approaches or the study of affected patients who carry cytogenetically visible chromosomal rearrangements are the only options left. The objective of this project is to design and use alternative strategies to identify the genes that are mutated in X-linked dominant disorders with male lethality: A icardi S yndrome (AS) and Goltz Syndrome or F ocal D ermal H ypoplasia (FDH), which has overlap in phenotypic features. These patients suffer from a variety of defects, including agenesis of the corpus callosum, microphthalmia, seizures, skeletal and skin defects. A predominant component of their phenotype is very severe to moderate mental retardation in all (Aicardi syndrome) or many (Goltz syndrome) affected patients. We previously demonstrated that AS and FDH are not allelic with microphthalmia with linear skin defects (MLS) syndrome, which has an overlapping phenotype and is caused by heterozygous deletions in Xp22.3. Relevance of the project to MRDDRC Mission: This project is highly relevant to the mission of the MRDDRC. AS and FDH are characterized by central nervous system and ocular abnormalities, and often profound mental retardation. The disorders are X-linked dominant and sporadic, hence the identification of the mutated gene is highly challenging and requires use of novel technologies (such as genomic arrays), DNA sequencing methods and detailed neuropathological evaluation. All these will benefit significantly from availability of the MRDDRC cores.
Aicardi Syndrome Articles, Support Groups, And Resources
aicardi syndrome articles, support groups, and resources for patients from Med Help International (www.medhelp.org)
http://www.medhelp.org/HealthTopics/Aicardi_Syndrome.html
Epilepsy Ontario :: Aicardi Syndrome
Epilepsy Ontario aicardi syndrome. Williams Syndrome. aicardi syndrome. aicardi syndrome, (Pediatric Database). Please e-mail info@epilepsyontario.org
http://epilepsyontario.org/client/EO/EOWeb.nsf/web/Aicardi Syndrome

Extractions: Sections Epilepsy Ontario Contact EO The Organization Our Resource Centre Epilepsy NEWS Announcements 'Sharing' News Epilepsy Information About Epilepsy Seizures Medications First Aid ... WWW Links Get Involved Local Chapters Provincial Programs Funding Volunteer Opportunities ... Direct Donation Products Helmets Epilepsy Monitoring Systems Glad Cards More... ...
Information About Aicardi Syndrome
This site contains valuable information about aicardi syndrome.
http://www.mamashealth.com/neu/aicardi.asp

Extractions: What is Aicardi Syndrome? Aicardi Syndrome is a rare genetic disorder characterized by the partial or complete absence of the structure that links the two hemispheres of the brain . The structure that links the two hemispheres of the brain is called the corpus callosum. Aicardi syndrome affects only girls. However, in very rare cases, males with Klinefelter syndrome . Aicardi syndrome usually begins between the ages of 3 and 5 months with infantile spasms, a type of childhood seizure. It may be associated with other brain defects such as a smaller than average brain and cavities or gaps in the brain filled with cerebrospinal fluid. Aicardi syndrome was first identified in 1965 by a French neurologist named Dr. Jean Aicardi. Symptoms of Aicardi Syndrome? The most common symptoms of aicardi syndrome are: Can Aicardi Syndrome be Treated?
Aicardi Syndrome - Washington DC
aicardi syndrome Washington Hospital Center is located in Washington DC.
http://www.whcenter.org/15166.cfm

Extractions: Home Back to Health Library Print This Page ... Corpus callosum of the brain Definition: Aicardi syndrome is a rare genetic disorder characterized by infantile spasms (jerking), absence of the corpus callosum (the connection between the two hemispheres of the brain), mental retardation, and lesions of the retina of the eye or optic nerve. Symptoms: Children are most commonly diagnosed with Aicardi Syndrome between the ages of three months and five months, if they meet the following criteria: Female sex (or XXY genotype male) Retinal lacunae lesions of the retina Seizures typically beginning as infantile spasms, a type of epileptic disorder in infants Absence of the corpus callosum (complete or partial)
Aicardi Syndrome - Alegent Health Serving Eastern Nebraska And Southwest Iowa
aicardi syndrome courtesy of Alegent Health serving eastern Nebraska and southwest Iowa - Council Bluffs, Iowa - Corning, Iowa - Missouri Valley,
http://www.alegent.com/1805.cfm

Extractions: @import url(default.css); Back to Health Library Print This Page Email to a Friend Corpus callosum of the brain Definition: Aicardi syndrome is a rare genetic disorder characterized by infantile spasms (jerking), absence of the corpus callosum (the connection between the two hemispheres of the brain), mental retardation, and lesions of the retina of the eye or optic nerve. Symptoms: Children are most commonly diagnosed with Aicardi Syndrome between the ages of three months and five months, if they meet the following criteria: Female sex (or XXY genotype male) Retinal lacunae lesions of the retina Seizures typically beginning as infantile spasms, a type of epileptic disorder in infants Absence of the corpus callosum (complete or partial)
Aicardi Syndrome - St. Joseph Mercy, Ann Arbor Michigan
aicardi syndrome St. Joseph Mercy Health System Hospitals serving Ann Arbor, SE Michigan, Washtenaw County, Livingston County, Wayne County,
http://www.sjmercyhealth.org/12364.cfm

Extractions: It is possible that the main title of the report Aicardi Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Aicardi Syndrome is an extremely rare congenital disorder in which the structure linking the two cerebral hemispheres of the brain (corpus callosum) fails to develop. The absence of the corpus callosum is associated with frequent seizures, marked abnormalities of the retina and choroid (the thin membrane that covers the retina) of the eyes, and/or mental retardation. Aicardi Syndrome Newsletter, Inc.
Aicardi Syndrome - Overview
aicardi syndrome is a rare genetic disorder identified by the French Neurologist, Dr, Jean Aicardi in 1965.This disorder is characterized by infantile
http://www.humed.com/humc_ency/ency/article/001664.htm

Extractions: Injury Disease Nutrition Poison ... Prevention Definition: Aicardi syndrome is a rare genetic disorder characterized by infantile spasms (jerking), absence of the corpus callosum (the connection between the two hemispheres of the brain), mental retardation, and lesions of the retina of the eye or optic nerve.
Aicardi Syndrome
aicardi syndrome. Back Home. User login. Enter your username and password here in order to log in on the website. Username. Password
http://www.naset.org/462.0.html

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