81. Disease - Aicardi Syndrome - Detroit, Michigan Disease aicardi syndrome - courtesy of Henry Ford Health System of Detroit, Michigan. Back to main Health Information page Disease - aicardi syndrome. http://www.henryfordhealth.org/12811.cfm

Health Encyclopedia Back to main Health Information page Disease - Aicardi syndrome 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. Causes And Risk: 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. 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) The classic criteria remain the cornerstone of diagnosis in most patients. However, in rare cases, one of the features, especially lack of development of the corpus callosum, may be missing. The diagnosis can probably be made in such cases if two or more of the criteria below are present:

82. Aicardi-Goutières Syndrome News, descriptions, contacts, and other information concerning this leukodystrophy. http://www.aicardi-goutieres.com

Aicardi-Goutières syndrome If your Browser show this, please mail me ! here are the keywords for the search machine : aicardi goutieres goutières syndrom syndrome disease dna kinderkrankheit anfall attack hereditary chromosom erbfehler chromosomen selten rare gen myelin verkalkung interferon alpha özer oezer miller hane dorn lebon voit klepper oriano coppi tew schulz werder kremer dorn crow rodriguez petersen Østergaard Oliveira Why this side about Aicardi - Goutieres syndrom? What is Aicardi - Goutieres syndrome ? How is Aicardi - Goutieres diagnostics ? Childs with Aicardi - Goutieres syndrome !

83. ORPHANET® : Aicardi, Syndrome D' syndrome d aicardi est http://www.orpha.net/static/FR/aicardi.html

Accès à la base de données Orphanet Aicardi, syndrome d' Accès direct aux détails Résumé Le syndrome d'Aicardi est une anomalie du développement caractérisée par une agénésie du corps calleux, des anomalies rétiniennes, des convulsions et un retard de développement mental. Son mode d'hérédité est dominant lié à l'X. Il serait donc létal dans le sexe masculin Quelques très rares cas de syndrome d'Aicardi ont été observés chez des garçons ayant une formule chromosomique 47,XXY. Il ne semble pas exister de différence appréciable de sévérité ou d'évolution par rapport aux cas féminins. *Auteur : Dr S. Aymé (juillet 2003)*. Signes de la maladie CONVULSIONS EPILEPSIE CORNEE OPACITE CORPS CALLEUX/SEPTUM PELLUCIDUM:AGENESIE COTES ANOMALIE HEMIVERTEBRES/FUSIONS VERTEBRALES PETITE TAILLE / NANISME RETARD MENTAL MODERE / LEGER RETINITE PIGMENTAIRE TRANSMISSION DOMINANTE LIEE A L'X HYPOTONIE IRIS COLOBOME MICROCEPHALIE MICROPHTALMIE SCOLIOSE CRYPTOPHTALMIE/ANKYLOBLEPHARON FENTE LABIALE LATERALE FENTE PALATINE HYPERTELORISME Mise à jour : 01/06/2004 Accès à la base de données Orphanet

84. Microphthalmos, Aicardi's Syndrome N, O, P, Q, R, S, T, U, V, W, X, Y, Z, Other characters, Microphthalmos, aicardi s syndrome,. Print this article, see aicardis syndrome and Walker Warburg syndrome. http://www.amershamhealth.com/medcyclopaedia/Volume VI 1/MICROPHTHALMOS AICARDIS

Amershamhealth.com Search for: Type a word or a phrase. All forms of the word are searchable. Browse entry words starting with: A B C D ... Other characters Microphthalmos, aicardi's syndrome, see Aicardis syndrome and Walker Warburg syndrome GS The Encyclopaedia of Medical Imaging Volume VI:1 Contacts GE Healthcare Making Waves

85. Aicardi's Syndrome aicardi s syndrome,. Print this article, aicardi s syndrome, Fig. 1. Agenesis of the corpus callosum, midline cyst and cortical heterotopias. http://www.amershamhealth.com/medcyclopaedia/medical/Volume VI 1/AICARDIS SYNDRO

Amershamhealth.com Search for: Type a word or a phrase. All forms of the word are searchable. Browse entry words starting with: A B C D ... Other characters Aicardi's syndrome, (J Aicardi, 20th century, French neurologist), X-linked dominant disorder consisting of infantile spasms, callosal agenesis or hypogenesis, chorioretinopathy, and an abnormal EEG. The syndrome occurs almost exclusively in females with no family history of ophthalmological or neurological disease. Affected patients must have two X chromosomes, so that patients with Kleinfelter's syndrome (47 XXY) can also have it. Intracranial anomalies include callosal hypogenesis ( Fig.1 ) (typically associated with interhemispheric cysts), grey matter heterotopia cortical dysplasia , posterior fossa cysts, cerebellar hypoplasia, choroid plexus papillomas , and microphthalmia. Ophthalmologic examination reveals characteristic chorioretinal lacunae, resulting from retinal dysplasia, and ocular colobomata. Myelination may be delayed. MR examination clearly demonstrates all these features. SG The Encyclopaedia of Medical Imaging Volume VI:1 Aicardi's syndrome, Fig. 1

86. Aicardi's Syndrome (www.whonamedit.com) aicardi s syndrome Characteristic malformation syndrome which appear in females only (males intrauterine death), with progrediating psychomotor deterioration http://www.whonamedit.com/synd.cfm/156.html

Home List categories Eponyms A-Z Biographies by country ... Contact Whonamedit.com does not give medical advice. This survey of medical eponyms and the persons behind them is meant as a general interest site only. No information found here must under any circumstances be used for medical purposes, diagnostically, therapeutically or otherwise. If you, or anybody close to you, is affected, or believe to be affected, by any condition mentioned here: see a doctor. Aicardi's syndrome Synonyms: Chorioretinal anomalies-corpus callosum agenesis-infantile spasms syndrome, corpus callosum agenesis-chorioretinal abnormality syndrome, corpus callosum agenesis-chorioretinopathy-infantile spasms syndrome, corpus callosum agenesis-ocular anomalies-salaam seizures syndrome. Associated persons: Jean Aicardi Description: Characteristic malformation syndrome which appear in females only (males - intrauterine death), with progrediating psychomotor deterioration. Infantile spasms, which may become manifest between 1 day and 4 months of age, epileptic attacks; typical bowing of the head (salaam seizures), agenesis of the corpus callosum, costovertebral anomalies, mental abnormalities, and hypotonia. Ocular changes include microphthalmia, eyelid twitching, absent pupillary reflexes, and funnel-shaped disks. Etiology unknown. Current theories include congenital infection, an X-linked genetic defect, and an intrauterine environmental agent. Poor prognosis. Aicardi first described the disorder in two girls. In the years that followed he was able to accumulate more cases, all of whom were females. His senior colleague, professor Jacques Lefebre, a co-author of an earlier abstract, encouraged him to delineate the new syndrome and in 1969 a full account was published in the French literature.

87. Dictionary Definition Of AICARDI'S SYNDROME Dictionary definition of aicardi S syndrome. Medical dictionary. Browse Dictionary by alphabet. 0 1 2 3 4 5 6 7 8 9 A B C D E F G H http://www.dictionarybarn.com/AICARDIS-SYNDROME.php

Dictionary definition of AICARDI'S SYNDROME Browse Dictionary by alphabet A B C D ... Z Top Words ai aI1 endonuclease AIC Aicardi's syndrome ... air hunger Please select first two letters of word you are looking for AA AB AC AD ... AZ fiSearchFormMaxSetId='AX006027'; Top Words air lift fermenter air microbiology air plant air pollutants ... Home Sponsored By: Georgia Flights Guam Flights Hawaii Flights

88. Aicardi's Syndrome Information Diseases Database aicardi s syndrome may cause or feature Medical information linksaicardi s syndrome specific sites. Medical dictionary, library and http://www.diseasesdatabase.com/ddb29761.htm

Diseases Database Index Sponsors Contact ... Previous Page Aicardi's syndrome Information Search Aicardi's syndrome may cause or feature (Follow link for list) belong(s) to the category of (Follow link for list) Aicardi's syndrome: Definition(s) via UMLS Code translations and terms via UMLS Aicardi's syndrome: specific sites Send Aicardi's syndrome to medical search engines (JavaScript enabled browsers only) If your browser has no JavaScript you can still use these: Search using Internet medical databases Search using Internet search engines (non-specialist) We subscribe to the HONcode principles of the Health On the Net Foundation i-medicine.info - the evidence based medicine, informatics and audit portal Valid XHTML 1.0 Served 2004-06-02 08:21:03 Metadata Updated 2004-05-22

89. Aicardi (syndrome D') syndrome très rare, qui touche essentiellement le sexe féminin, et associant une agénésie calleuse (absence totale ou partielle de la http://www.vulgaris-medical.net/texta/aicardi.html

Aicardi (syndrome d') Syndrome très rare, qui touche essentiellement le sexe féminin, et associant une agénésie calleuse (absence totale ou partielle de la partie réunissant les deux hémisphères cérébraux constituant le cerveau, et constituée de substance blanche) avec un retard mental et une microcéphalie (taille du crâne inférieure à la normale) qui s'accuse avec le temps. S'y associent également le plus souvent : des anomalies des côtes et des vertèbres sont fréquentes, s'associant à des spasmes entraînant des mouvements en flexion des choriorétinites : inflammation de la rétine et de la choroïde de l'œil (portion située en arrière du globe oculaire, entre la rétine et la sclérotique - appelée également sclère - qui est la partie fibreuse résistante se continuant par la cornée qui elle, est transparente). L'agénésie du corps calleux entraîne : une hypotonie (c'est-à-dire une faiblesse du tonus musculaire) un retard dans l'acquisition de la marche des crises d'épilepsie (dans 40 % des cas environ). Diagnostic prénatal et post-natal L'échographie faite pendante la grossesse permet de détecter les modifications du volume du crâne qui accompagnent parfois l'agénésie du corps calleux. Elle montre d'autre part l'écartement des ventricules cérébraux, tout particulièrement dans la région occipitale c'est-à-dire vers l'arrière du crâne. Après la naissance, l'échographie visualise l'orientation particulière des sillons de la face interne des hémisphères cérébraux. Ces sillons ont une disposition qualifiée de radiaire.

90. Blackwell Synergy - Cookie Absent Correspondence. Anaesthesia management in a patient with aicardi s syndrome. T. IacobucciM. GaleoneG. de Francisci. aicardi s syndrome http://www.blackwell-synergy.com/links/doi/10.1046/j.1365-2044.2003.296814.x

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91. ORPHANET - Maladies Rares - Médicaments Orphelins http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=50

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