21. Rubinstein-Taybi, Syndrome : Sites Et Documents Francophones Translate this page Rubinstein-Taybi, syndrome. Arborescence(s) du thesaurus MeSH contenant le mot-clé Rubinstein-Taybi, syndrome rubinstein-taybi syndrome http://www.chu-rouen.fr/ssf/pathol/rubinsteintaybisyndrome.html

Rubinstein-Taybi, syndrome Menu général CISMeF Voir aussi retard mental Arborescence(s) Rubinstein-Taybi, syndrome Rubinstein-Taybi syndrome appareil locomoteur, maladies maladies et malformations congénitales, héréditaires et néonatales système nerveux, maladies Position du mot-clé dans l' (les) arborescence(s) : Vous pouvez consulter toutes les ressources ou seulement les principales ou utiliser l' outil de recherche les recommandations les documents concernant l' enseignement les documents destinés aux patients Ou consulter ci-dessous une sélection des principales ressources : Qualificatifs : diagnostic consultation médicale Oto-palato-digital, syndrome [Par Dr Delahaye A. Site éditeur Orphanet base de données sur les maladies rares et les médicaments orphelins. Direction Générale de la Santé / INSERM ; description de la maladie, signes cliniques, autres sites Internet, types de consultations adaptées, laboratoire de diagnostic, projet de recherche ; pays : France ; langue : français ; format : html ; accès : gratuit ; non parrainé ; daté de : 2004 ; visité le : 24/02/2004]. mots clés : conseil génétique maladies rares Rubinstein-Taybi, syndrome

22. Health Library - Most cases of rubinsteintaybi syndrome occur randomly, for no net Internet http//www.rubinstein-taybi.org AND www.rubinsteintaybi.com Congenital Heart http://yalenewhavenhealth.org/library/healthguide/IllnessConditions/topic.asp?hw

23. RUBINSTEIN-TAYBI SYNDROME Features Listed For rubinsteintaybi syndrome. McKusick 180849. Abnormally shaped teeth; Absent/hypoplastic thymus; Agenesis/hypoplasia of corpus callosum; http://www.hgmp.mrc.ac.uk/dhmhd-bin/hum-look-up?1486

24. Disease Directory : Rare Disorders : Rubinstein-Taybi Syndrome Diseases Rare Disorders rubinsteintaybi syndrome. 782 rubinstein-taybi syndrome with hepatoblastoma. - rubinstein-taybi syndrome with hepatoblastoma. http://www.diseasedirectory.net/Rare_Disorders/Rubinstein-Taybi_Syndrome/default

Wednesday, June 02, 2004 Rare Disorders Agnosia Aicardi Syndrome Alstrom Syndrome ... Rare Disorders : Rubinstein-Taybi Syndrome 782: Rubinstein-Taybi syndrome with hepatoblastoma. - Rubinstein-Taybi syndrome with hepatoblastoma. We report a two-year old male patient, with Rubinstein-Taybi syndrome, phenylketonuria and hepatoblastoma. eMedicine - Rubinstein-Taybi Syndrome : Article Excerpt by ... - eMedicine World Medical Library. (advertisement). Excerpt from Rubinstein-Taybi Syndrome. Please click here to view the full topic text: Rubinstein-Taybi Syndrome. Health Library - Rubinstein-Taybi Syndrome - Rubinstein-Taybi Syndrome. Self Help Clearinghouse. Founded 1984.Mutual support, information and sharing for parents of children with Rubinstein-Taybi syndrome. HealthWise Knowledgebase - An article about Rubinstein-Taybi syndrome, a general discussion, symptoms, causes, incidence, treatment and resources. IRSC - Rare Disorders, Rubinstein-Taybi Syndrome Monozygotic twins concordant for Rubinstein-Taybi syndrome and ... - Monozygotic twins concordant for Rubinstein-Taybi syndrome and implications for genetic counseling. Robinson TW, Stewart DL, Hersh JH. ORPHANET® : Rubinstein-Taybi syndrome - ORPHANET. ORPHANET database access. Rubinstein-Taybi syndrome. Direct access to details Alias : Home Page.

25. Disease Directory : Rubinstein-Taybi Syndrome,Rubinstein-Taybi Syndrome,Rubinste Diseases Rare Disorders rubinsteintaybi syndrome rubinstein-taybi syndrome,rubinstein-taybi syndrome,Rubinstein Directory Listing. http://www.diseasedirectory.net/detailed/27577.aspx

Wednesday, June 02, 2004 Rare Disorders Agnosia Aicardi Syndrome Alstrom Syndrome ... Rubinstein-Taybi Syndrome : Rubinstein-Taybi Syndrome,Rubinstein-Taybi Syndrome,Rubinstein ... Directory Listing Title: Rubinstein-Taybi Syndrome,Rubinstein-Taybi Syndrome,Rubinstein ... Description: Rubinstein-Taybi Syndrome,Rubinstein-Taybi Syndrome,Rubinstein-Taybi Syndrome,Broad Thumbs and Great Toes Characteristic Facies and Mental Retardation Date Added: 2/17/2004 4:19:25 PM URL: http://www.icomm.ca/geneinfo/rts.htm

26. MedlinePlus Medical Encyclopedia: Rubinstein-Taybi Syndrome rubinsteintaybi syndrome. rubinstein-taybi syndrome (RTS) is a rare condition, affecting about 1 in 125,000 people. The gene involved http://www.nlm.nih.gov/medlineplus/ency/article/001249.htm

@import url(http://www.nlm.nih.gov/medlineplus/images/advanced.css); Skip navigation Medical Encyclopedia Other encyclopedia topics: A-Ag Ah-Ap Aq-Az B-Bk ... Z Rubinstein-Taybi syndrome Contents of this page: Illustrations Alternative names Definition Causes, incidence, and risk factors ... Prevention Illustrations Polydactyly - an infant's hand Alternative names Return to top Rubinstein syndrome Definition Return to top Rubinstein-Taybi syndrome is a genetic disease characterized by mental deficiency, broad thumbs and toes, short stature , and characteristic facial features. Causes, incidence, and risk factors Return to top Rubinstein-Taybi syndrome (RTS) is a rare condition, affecting about 1 in 125,000 people. The gene involved in RTS, which is called CREB binding protein (CREBBP), was identified in 1995. Most patients have mutations in the gene, resulting in an abnormal CREB binding protein. About 10% of patients, typcially with more severe problems, have an outright deletion of the gene and they do not make any of the protein. Most cases are sporadic and likely due to a new mutation occurring during fetal development, which was not passed on by either parent. However, in some cases, it is inherited in an autosomal dominant fashion, which means that if one parent passes on the defective gene, the child will be affected.

27. Rubinstein-Taybi Syndrome (RSTS, RTS) Syndromes. View the Full Record. Syndrome, rubinsteintaybi syndrome (RSTS, RTS). Synonyms, Rubinstein syndrome. broad thumb-hallux syndrome. http://www.nlm.nih.gov/mesh/jablonski/syndromes/syndrome565.html

Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes View the Full Record Syndrome Rubinstein-Taybi syndrome (RSTS, RTS) Synonyms Rubinstein syndrome broad thumb-hallux syndrome broad thumb-mental retardation syndrome Summary A syndrome of broad thumbs and halluces, typical dysmorphic facies, delayed mental and physical development, pulmonary stenosis, large foramen magnum, vertebral and sternal deformities, dermatoglyphic changes, and other anomalies. Major Features Head and neck: Microcephaly, prominent forehead, large foramen magnum, and micrognathia. Characteristic smile and grimacing in most cases. Ears: Frequent middle ear infections. Eyes: Strabismus, cataracts, coloboma, long eyelashes, blepharoptosis, juvenile glaucoma, tear duct obstruction, refractive errors, and downslanting palpebral fissures. Nose: Broad nasal bridge, beaked nose with the nasal septum extending, below the alae, and epicanthal folds. Mouth and oral structures: Highly arched palate and less frequently bifid uvula, cleft palate, bifid tongue, macroglossia, short lingual frenum, thin upper lip, and natal teeth. Thorax: Pectus excavatum, sternal abnormalities, and rib defects.

28. Rubinstein Taybi Syndrome net Internet http//www.rubinsteintaybi.org AND www.rubinsteintaybi.com Congenital OH 45229-2899 Tel (513)559-4688 rubinstein-taybi syndrome UK Support http://my.webmd.com/hw/health_guide_atoz/nord461.asp

var guid_source = ""; var guid_source_id = ""; //unused var encodedurl = ""; WebMD Today Home WebMD News Center Member Services WebMD University My WebMD Find a Physician Medical Info Check Symptoms Medical Library Quizzes, Calculators Clinical Trials ... Women, Men, Lifestyle Who We Are About WebMD Site Map You are in Medical Library Choose a Topic Our Content Sources Ask A Question Clinical Trials Health Guide A-Z Health Topics Symptoms Medical Tests Medications ... For a Complete Report Rubinstein Taybi Syndrome Important It is possible that the main title of the report Rubinstein Taybi 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. Synonyms Broad Thumbs and Great Toes, Characteristic Facies, and Mental Retardation Rubinstein syndrome RSTS Rubinstein Taybi (RTS) Broad Thumb-Hallux syndrome Disorder Subdivisions None General Discussion Resources Children's Craniofacial Association 13140 Coit Road Dallas, TX 75240 Tel: (214)570-9099 Fax: (214)570-8811 Tel: (800)535-3643 Email: contactcca@ccakids.com

29. Rubinstein-Taybi Syndrome rubinsteintaybi syndrome Rubinstein-Taybi Parent Group Mutual support, information and sharing for parents of children with rubinstein-taybi syndrome. http://my.webmd.com/hw/health_guide_atoz/shc29rts.asp

var guid_source = ""; var guid_source_id = ""; //unused var encodedurl = ""; WebMD Today Home WebMD News Center Member Services WebMD University My WebMD Find a Physician Medical Info Check Symptoms Medical Library Quizzes, Calculators Clinical Trials ... Women, Men, Lifestyle Who We Are About WebMD Site Map You are in Medical Library Choose a Topic Our Content Sources Ask A Question Clinical Trials Health Guide A-Z Health Topics Symptoms Medical Tests Medications ... Rubinstein-Taybi Parent Group Rubinstein-Taybi Syndrome Rubinstein-Taybi Parent Group National network. 350 member families. Founded 1984. Mutual support, information and sharing for parents of children with Rubinstein-Taybi syndrome. Information, phone contact, parent contact list. WRITE: Rubinstein-Taybi Parent Group c/o Garry and Lorrie Baxter P.O. Box 146 Smith Center, KS 66967 CALL: 1-888-447-2989 FAX: 785-697-2985 E-MAIL: lbaxter@ruraltel.net WEBSITE: http://www.rubinstein-taybi.org VERIFIED: 7/1/2003 The above information is based upon information available through the "verified" date at the end of each listing. Since American Self-Help Group Clearinghouse's resources are limited; it is not possible to keep every entry in American Self-Help Group Clearinghouse database completely current and accurate. Please check with the organizations listed for the most current information. For additional information and assistance about self-help groups, please contact the American Self-Help Group Clearinghouse in Cedar Knolls, New Jersey, by email at: info@selfhelpgroups.org

30. IRSC - Rare Disorders, Rubinstein-Taybi Syndrome Rare Disorders rubinsteintaybi syndrome. IRSC Home Rare Disorders rubinstein-taybi syndrome. Categories. http://www.irsc.org:8080/irsc/irscmain.nsf/sub?readform&cat=Rare Disorders&subca

31. IRSC - Rare Disorders, Rubinstein-Taybi Syndrome Rare Disorders rubinsteintaybi syndrome. IRSC Home Rare Disorders rubinstein-taybi syndrome. Categories. Online Community, Web Pages, http://www.irsc.org:8080/irsc/irscmain.nsf/sub?readform&cat=Rare Disorders&subca

32. Rubinstein Taybi Syndrome Rubinstein taybi syndrome,. Print this article, Rubinstein taybi syndrome, Fig. 1. Bilateral hand radiographs in an infant with rubinsteintaybi syndrome. http://www.amershamhealth.com/medcyclopaedia/medical/Volume VII/RUBINSTEIN TAYB

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 Rubinstein taybi syndrome, (Jack Rubinstein, born 1925, American paediatrician; Hooshang Taybi, 20th century, American neurologist), a syndrome comprising short stature, facial dysmorphism, broad thumbs and a broad big toe, associated with mental and motor retardation. Radiologically, there is a short, wide terminal phalanx to the thumb ( Fig.1 ) and big toe. HC The Encyclopaedia of Medical Imaging Volume VII Rubinstein taybi syndrome, Fig. 1 Bilateral hand radiographs in an infant with Rubinstein-Taybi syndrome. Note the broad thumbs with deformed phalanges. The distal phalanx is subluxed and is broad. Contacts GE Healthcare Making Waves

33. Rubinstein – Taybi Syndrome Rubinstein – taybi syndrome,. Print this article, Rubinstein – taybi syndrome, Fig. 1. Bilateral hand radiographs in an infant with rubinsteintaybi syndrome. http://www.amershamhealth.com/medcyclopaedia/Volume VII/RUBINSTEIN TAYBI 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 Rubinstein – taybi syndrome, (Jack Rubinstein, born 1925, American paediatrician; Hooshang Taybi, 20th century, American neurologist), a syndrome comprising short stature, facial dysmorphism, broad thumbs and a broad big toe, associated with mental and motor retardation. Radiologically, there is a short, wide terminal phalanx to the thumb ( Fig.1 ) and big toe. HC The Encyclopaedia of Medical Imaging Volume VII Rubinstein – taybi syndrome, Fig. 1 Bilateral hand radiographs in an infant with Rubinstein-Taybi syndrome. Note the broad thumbs with deformed phalanges. The distal phalanx is subluxed and is broad. Contacts GE Healthcare Making Waves

34. Rubinstein -Taybi Syndrome - FISH Analysis rubinsteintaybi syndrome FISH ANALYSIS. microduplications. FISH analysis for rubinstein-taybi syndrome is performed on metaphase chromosomes. The http://www.bcmgeneticlabs.org/tests/cyto/rubinstein-taybi.html

RUBINSTEIN-TAYBI SYNDROME FISH ANALYSIS Open Page in New Window Print This Page Return to Search The Kleberg Cytogenetics Laboratory offers a fluorescence in situ hybridization (FISH)-based assay for identifying the microdeletion of 16p associated with Rubinstein-Taybi Syndrome. Clinical Features: Rubinstein-Taybi syndrome is found in approximately 1/125,000 newborns and is characterized by unusual facies, broadening of the thumbs and great toes, and mental retardation. The syndrome was mapped to distal 16p13.3 by the rare observation of chromosome rearrangements involving this region. Reasons for Referral: Patients with clinical features suggestive of Rubinstein-Taybi Syndrome may be tested for deletions of 16p13.3 by FISH simultaneously with high-resolution chromosomal analysis (if not previously performed). Prenatal diagnosis may be performed if an affected family member has been studied in our laboratory and shown to have a deletion detectable by FISH. Please call regarding all prenatal samples.

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36. Health, Conditions And Diseases, Rare Disorders: Rubinstein-Taybi Syndrome Kingdom. rubinsteintaybi syndrome is a rare genetic multisystem disorder that affects many organ systems of the body. Help build http://www.combose.com/Health/Conditions_and_Diseases/Rare_Disorders/Rubinstein-

Top Health Conditions and Diseases Rare Disorders ... Rubinstein-Taybi Syndrome Related links of interest: Health:Conditions and Diseases:Neurological Disorders:Chromosomal Health:Conditions and Diseases:Genetic Disorders Health:Conditions and Diseases:Musculoskeletal Disorders HealthWise Knowledgebase - An article about Rubinstein-Taybi syndrome, a general discussion, symptoms, causes, incidence, treatment and resources. Pediatric Database - An in depth look at rubinstein-taybi syndrome beginning with a definition, on to epidemiology, pathogenesis, clinical features, investigations and management. Rubinstein Taybi Syndrome Support Group (UK) - Information, forum, links, contacts, and guestbook. Rubinstein-Taybi Syndrome - A site devoted to the families and people diagnosed with this syndrome. The CaF Directory - A description of rubinstein taybi syndrome, its inheritance pattern, psychological and behavoural characteristics and a support group for those living in the United Kingdom. Rubinstein-Taybi syndrome is a rare genetic multisystem disorder that affects many organ systems of the body. Help build the largest human-edited directory on the web.

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38. Rubinstein-Taybi Syndrome The New Health Directory, Directory, Home Health Conditions and Diseases Rare Disorders rubinsteintaybi syndrome (5) See Also http://www.thenewhealthfind.com/Health/ConditionsandDiseases/RareDisorders/Rubin

Directory Home Health Conditions and Diseases Rare Disorders : Rubinstein-Taybi Syndrome (5) See Also: Health: Conditions and Diseases: Genetic Disorders Health: Conditions and Diseases: Musculoskeletal Disorders Health: Conditions and Diseases: Neurological Disorders: Chromosomal Rubinstein-Taybi Syndrome - A site devoted to the families and people diagnosed with this syndrome. HealthWise Knowledgebase - An article about Rubinstein-Taybi syndrome, a general discussion, symptoms, causes, incidence, treatment and resources. The CaF Directory - A desrciption of rubinstein taybi syndrome, its inheritance pattern, psychological and behavoural characteristics and a support group for those living in the United Kingdom. Pediatric Database - An in depth look at rubinstein-taybi syndrome beginning with a definition, on to epidemiology, pathogenesis, clinical features, investigations and management. Rubinstein Taybi Syndrome Support Group (UK) - Information, forum, links, contacts, and guestbook. Help build the largest human-edited directory on the web. Submit a Site Open Directory Project Become an Editor Quick Links vaginal itching prescription eyeglasses information on fibromyalgia corrective contact lenses ... early symptoms of fibromyalgia The New Health Directory Site Map Privacy Contact Advertise ... Health Directory

39. Rubinstein-Taybi Syndrome- Medcohealth.com rubinsteintaybi syndrome. Source ADAM, Inc. Cause And Risk. rubinstein-taybi syndrome (RTS) is a rare condition, affecting about 1 in 125,000 people. http://www.medcohealth.com/medco/consumer/ehealth/ehsarticle.jsp?topicID=HE:Dise

40. Rare Disorders: Rubinstein-Taybi Syndrome Rare Disorders rubinsteintaybi syndrome. Rubinstein Taybi Syndrome Support Group (UK). Information, forum, links, contacts, and guestbook. http://www.puredirectory.com/Health/Conditions-and-Diseases/Rare-Disorders/Rubin

Rare Disorders: Rubinstein-Taybi Syndrome Home Health Conditions and Diseases Rare Disorders : Rubinstein-Taybi Syndrome google_ad_client = 'pub-3272565765518472';google_ad_width = 336;google_ad_height = 280;google_ad_format = '336x280_as';google_color_border = 'FFFFFF';google_color_bg = 'FFFFFF';google_ad_channel ='7485447737';google_alternate_color = 'FFFFFF';google_color_link = '0000FF';google_color_url = '008000';google_color_text = '000000'; Standard Listings HealthWise Knowledgebase An article about Rubinstein-Taybi syndrome, a general discussion, symptoms, causes, incidence, treatment and resources. Pediatric Database An in depth look at rubinstein-taybi syndrome beginning with a definition, on to epidemiology, pathogenesis, clinical features, investigations and... Rubinstein Taybi Syndrome Support Group (UK) Information, forum, links, contacts, and guestbook. Rubinstein-Taybi Syndrome A site devoted to the families and people diagnosed with this syndrome. The CaF Directory A description of rubinstein taybi syndrome, its inheritance pattern, psychological and behavoural characteristics and a support group for those li... Help build the largest human-edited directory on the web.

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