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Rubinstein-taybi Syndrome: more detail

Dysostoses: Syndrome D'apert, Syndrome de Rubinstein-Taybi, Syndrome Oro-Facio-Digital Type 1, Syndrome de Greig, Syndrome de Pfeiffer (French Edition)
Rubinstein-Taybi syndrome: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Java, MS Solis, 2005
Rubinstein-Taybi Syndrome - A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers by Philip M. Parker, 2007-07-18
Cornelia de lange syndrome / maple syrup urine disease / Rubinstein-Taybi syndrome: behavior issues, activities, and conclusions.: An article from: Palaestra by Robert C. Weber, 2006-03-22
Consanguineous Marriages in the American Population by George B. Louis Arner, 2010-08-10

lists with details

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

Extractions: 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].
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
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
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

Extractions: 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. ORPHANETÂ® : Rubinstein-Taybi syndrome - ORPHANET. ORPHANET database access. Rubinstein-Taybi syndrome. Direct access to details Alias : Home Page.
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
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

Extractions: @import url(http://www.nlm.nih.gov/medlineplus/images/advanced.css); Skip navigation Other encyclopedia topics: A-Ag Ah-Ap Aq-Az B-Bk ... Z Contents of this page: 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.
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

Extractions: 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.
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
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

Extractions: 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
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
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
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

Extractions: 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.
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

Extractions: 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.
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

Extractions: 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.
Rubinstein-Taybi Syndrome
Home Up . Click Here! rubinsteintaybi syndrome. Click Here! Music-e.net Just-recipes.net EnvyMag.com Scholarships-4u.com Shesearch
http://www.health-server.com/rubinstein-taybi_syndrome.htm
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-
Rare Disorders, Rubinstein-Taybi Syndrome
More rubinsteintaybi syndrome Categories » Submit Your Site to the rubinstein-taybi syndrome category. Sponsored rubinstein-taybi syndrome Sites.
http://www.iseekhealth.com/rubinstein-taybi_syndrome-2210.php
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
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
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

Extractions: 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';

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