Geometry.Net - Health_Conditions: Cockayne Syndrome

Mental Retardation
Angelman Syndrome U. of Reading. cockayne syndrome Search PUBMED for CockayneSyndrome All Review Therapy Diagnosis; cockayne syndrome Med. Coll.
http://www.ohsu.edu/cliniweb/C10/C10.496.html
GENATLAS CITATION DATABASE
1999, Alterations in the CSB gene in three italian patients with the severeform of cockayne syndrome (CS) but without clinical photosensitivity.
http://bisance.citi2.fr/cgi-bin/biblio?symb=ERCC6&wher=2
Searchalot Directory For Cockayne Syndrome
Related Web Sites. cockayne syndrome Genes and disease providesa short description of this inherited disorder. NORD - Cockayne
http://www.searchalot.com/Top/Health/ConditionsandDiseases/NeurologicalDisorders

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Oren
2 Griscelli Syndrome. Xeroderma Pigmentosum and cockayne syndrome 1 XerodermaPigmentosum (XP). 2 cockayne syndrome (CS) Type I. 3 cockayne syndrome Type II.
http://www.homepages.hetnet.nl/~b1beukema/ziekoren.html

Extractions: Oren; Ogen; Huid; Ingewanden Oren : Waardenburg Syndrome Type I Waardenburg Syndroom Type IIA Waardenburg Syndroom Type IIB ... Congenital Sensorineural Deafness, X-linked, Ogen : Color Vision and its Genetic Defects : A Red-Green defects Protanopia Deuteranopia 3 Protanomaly 4 Deuteranomaly B Blue-Yellow Defects : Tritanopia Tritanomaly C Achromatopsias : Complete Rod Monochromacy 2 Atypical rod monochromacy Blue cone monochromacy 4 Various rare cone and cone-rod dystrophies Retinitis Pigmentosa : Retinitis Pigmentosa, X-linked, recessive Retinitis Pigmentosa, Y-linked Retinitis Pigmentosa, Late Adult Onset Choroideremia ; Choroideremia Norrie Disease : Norrie Disease Huid : Albinism : Oculocutaneous Albinism OCA 1 : Tyrosinase-Related Oculocutaneous Albinism 2 OCA 1A : Tyrosinase-Negative OCA 3 OCA 1B : Yellow OCA 4 OCA 1MP : Minimal Pigment OCA OCA 2 : Tyrosinase-Positive OCA Brown OCA 7 Red or rufous OCA Autosomal dominant OCA Ocular Albinism : OA 1 ( Ocular Albinism, X-linked )
POSTER96_16.HTML
Cataract in cockayne syndrome Early Onset and Classic. Rosane C. Ferreira, MD*;Elizabeth R. Roeder, MD**;. Ocular and genetic features of Cockayne's syndrome.
http://med-aapos.bu.edu/pappostp5/poster96_16.html

Extractions: Valley Children's Hospital, UCSF, Fresno, CA INTRODUCTION: Cockayne syndrome (CS) is a heterogeneous autosomal recessive disorder with the common features of a progressive neurodegeneration associated with microcephaly, ataxia, intracranial calcification, dwarfism, sensorineural deafness and photosensitivity. Common ocular findings include enophthalmos, hyperopia, poor pupillary dilation, cataract and retinitis pigmentosa. Classic CS has its onset with growth failure after the first year of life. Early-onset CS is characterized by intrauterine growth failure and severe neurologic dysfunction from birth. We report cataract in one patient with the early-onset CS and in three with classic CS. METHODS: Four patients with CS underwent complete ophthalmologic evaluation; electroretinogram (ERG) was performed in all. The diagnosis was made on the basis of physical features and the ERG.
Individual Syndrome Web Site Template Page
cockayne syndrome. OMIM Citation Direct Link. NORD Human Growth Foundation. CockayneSyndrome Support Group (Snail Mail, UK). Mailing List Recruitment (Mailto).
http://georgia.ncl.ac.uk/URODwSMLS/IWS/Cs/Cockayne.html
Xpmutations.org - Database Of Allelic Variations Of XP Genes
and other allelic variations of the genes involved in the DNA repair disorders,Xeroderma Pigmentosum (XP), cockayne syndrome (CS), Trichothiodystrophy (TTD
http://xpmutations.org/

Extractions: PURPOSE This website hosts an interactive repository of mutations and other allelic variations of the genes involved in the DNA repair disorders, Xeroderma Pigmentosum (XP), Cockayne Syndrome (CS), Trichothiodystrophy (TTD), and other UV-sensitivity disorders. RESOURCES Educational module of the molecular biology of Nucleotide Excision Repair This website is designed for information and research purposes. Although every effort has been made to ensure accuracy, we recommend that original publications also be consulted for any further research. No expressed or implied warranty is assured. Any errors should be directed to the author as indicated in the Contact Us page. Additional information on any cell lines mentioned in this website, and any new examples, are welcomed and should also be directed to the authors.
DermIS / Main Menu / DOIA / Cockayne´s Syndrome / Images
cockayne´s syndrome / images
http://www.dermis.net/bilddb/diagnose/englisch/i009925.htm
Cockayne's Syndrome Handbook
cockayne's syndrome Handbook. Please Email comments to DBBusch@aol.com.THE cockayne'S syndrome HANDBOOK What is cockayne's syndrome?
http://members.aol.com/DBBusch/shareandcare.cshandbook.html

Extractions: This is a rough initial draft of a handbook on Cockayne's syndrome (CS), modeled after "The Xeroderma Pigmentosum Handbook" by Mary Ellen Fitzgerald and Richard Ng; and "Understanding Xeroderma Pigmentosum" by Ken Kraemer. It is in need of editing, proofreading, and possibly some approvals before it is to be brought to the attention of the general public, but is being posted on the Internet at the above Web site address (URL) in order to facilitate access by persons being consulted about the Share and Care Home Page under revision at http://members.aol.com/DBBusch/shareandcarehome.html ( Share and Care Home Page ) . Please E-mail comments to DBBusch@aol.com. Cockayne's syndrome (Cockayne syndrome; CS) is a rare and devastating genetic disease. It is present in about 1/100,000 live births. Its inheritance is autosomal recessive. In other words, it occurs if both the father and the mother pass on a damaged gene to the affected child, with the parents themselves having no health problems related to CS, and with 1/4 of the siblings expected to also have CS. CS may be diagnosed if both of the following major criteria and three of the five minor criteria are met:
Cockayne, Syndrome : Arborescences MeSH
Translate this page cockayne, syndrome. achondroplasie C05.116.099.343.110 page CISMeF du motclefcockayne, syndrome C05.116.099.343.250 page CISMeF du motclef
http://www.chu-rouen.fr/navimesh/navicockaynesyndrome.html
Cockayne's Syndrome (www.whonamedit.com)
cockayne's syndrome Symptom complex with long list of clinical features, includingdwarfism with disproportionately long extremities and large hands and feet
http://www.whonamedit.com/synd.cfm/1182.html

Extractions: Symptom complex with long list of clinical features. Main characteristics are dwarfism with disproportionately long extremities and large hands and feet, kyphosis, cold blue extremities, beak-like nose giving the patient a prematurely old appearance, sparse hair, mental retardation, sensorineural deafness, blindness due to retinal degeneration, coarse voice, deep eyes, prognathism, thickened skull, hypersensitivity of the skin to sunlight with pigmentation and scarring, unsteady gait, dental caries appearing during the second year of life, progressive upper motor neurone and cerebellar dysfunction, lack of subcutaneous fat of the face. Two distinct types of CS have been identified. CS type I is the classic and most common form. CS type II is more severe and characterized by the early onset of symptoms. Even though no two children with CS are identical, they often resemble each other more than they resemble their unaffected siblings because of the distinguishing characterists of the syndrome, especially as they get older.
Service Page - Pathologie Information
Translate this page MALADIE cockayne, syndrome de, Maladie(s) incluse(s) cockayne type 1, syndromede cockayne type 2, syndrome de cockayne type 3, syndrome de, CIM Q87.1,
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=191
Cockayne's Syndrome - General Practice Notebook
medical information from General Practice Notebook. cockayne's syndrome.cockayne's syndrome is a very rare autosomal recessive degenerative
http://www.gpnotebook.co.uk/cache/-825229288.htm

Extractions: Cockayne's syndrome Cockayne's syndrome is a very rare autosomal recessive degenerative disease characterised by cutaneous, ocular, neurologic and somatic abnormalities. Cutaneous findings include photosensitivity, diffuse hyperpigmentation and loss of subcutaneous fat. Ocular findings include cataracts, optic atrophy and a characteristic "salt and pepper" appearance of the retina. Neurologic findings include deafness, peripheral neuropathy, normal pressure hydrocephalus and microcephaly. The pathogenesis of the neurological dysfunction is thought to be dysmyelination. Somatic abnormalities include cachectic dwarfism - height and weight are usually below the third percentile for age.
Cockayne's Syndrome
cockayne's syndrome,, Print this article, (Edward Alfred cockayne, 18801956,English physician), inherited, autosomal recessive leukodystrophy.
http://www.amershamhealth.com/medcyclopaedia/Volume VI 1/COCKAYNES SYNDROME.asp

Extractions: *For Medical Professionals only, registration required Cockayne's syndrome, (Edward Alfred Cockayne, 18801956, English physician), inherited, autosomal recessive leukodystrophy . Pathologically the disease is characterized by demyelination in a patchy fashion with preservation of areas of normal myelin; sudanophilic lipids may be found together with astrogliosis and calcium deposition mainly perivascularly. Symptoms present in infancy and are characterized by ataxia, delayed development and progressive spasticity. CT and more usually MR show extensive areas of demyelination with increased T2 signal on MR T2-weighted images; calcification may be present in the basal ganglia and cerebellum.
Cockayne's Syndrome
one click For Medical Professionals only. cockayne's syndrome,, Printthis article, (Edward cockayne, 18801956, British paediatrician
http://www.amershamhealth.com/medcyclopaedia/Volume VII/COCKAYNES SYNDROME.asp

Extractions: *For Medical Professionals only, registration required Cockayne's syndrome, (Edward Cockayne, 18801956, British paediatrician and dermatologist), progressive growth failure with short stature, developmental delay and progressive neurological dysfunction. There are often cutaneous abnormalities, progressive pigmented retinopathy, dental caries and sensineuronal hearing loss. Radiologically there is microcephaly with a thick cranial vault and a small sella turcica. Intracranial calcification occurs in the basal ganglia and subcortical white matter, cerebellum and pineal glands. Brain atrophy is common. Inheritance is autosomal recessive.
Xeroderma Pigmentosum Contact Information
Lab, Biochemical Pathology Division, Armed Forces Institute of Pathology This labortoryprovides the only clinical testing for cockayne's syndrome and XP that
http://www.xps.org/contacts.htm

Extractions: XP Society Contacts Links News Research and ... [Archives] How to learn more The toll free number reaches our Poughkeepsie office which is only staffed on Wednesday, 2 to 4pm EST. At all other times, messages are recorded and checked regularly. Regular mail of a contribution or letter, please address to: E-mail mailing list: XP-Connection XPS newsletter XP Report is published several times a year. Join the XP Society to get on the mailing list, or view recent issues on line. Speakers Bureau The XP Society strives to keep the public informed about XP, current research, and XPS activities.
Cockayne (syndrome De)
Translate this page cockayne (syndrome de). voir également progeria, nystagmus, chorée, athétose. Lesyndrome de cockayne fait partie des leucodystrophies soudanophiles.
http://www.vulgaris-medical.com/textc/cockayne.htm

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