61. Orthoguide.com Rubinstein-Taybi Syndrome Search results for rubinsteintaybi syndrome . NO MATCHES FOUND-Pleaseselect a different keyword or category OR Search AltaVista http://www.orthoguide.com/ortho/Rubinstein-Taybi_Syndrome.php3

Search results for "Rubinstein-Taybi Syndrome" NO MATCHES FOUND-Please select a different keyword or category OR Search AltaVista for 'Rubinstein-Taybi Syndrome' Global Search Add Url Free Medline ... Search Enter Keywords to Search and Your Choice of Search Arguments Or And Match entire phrase Orthoguide.com

62. Center Of Excellence At Special Friends Center of Excellence The rubinsteintaybi syndrome Center of Excellence The1993 International Conference on rubinstein-taybi syndrome and. http://www.specialfriends.org/centerofexcell.html

Purpose “Best Practice” Treatment Research Recognition Center of Excellence The Rubinstein-Taybi Syndrome Center of Excellence The University Affiliated Cincinnati Center for Developmental Disorders at Children’s Hospital Medical Center – Cincinnati, Ohio. Purpose Funded with a generous contribution by the Special Friends Foundation , the purpose of the Rubinstein-Taybi Syndrome Center of Excellence is to provide coordinated, high quality consultation and services in the areas of diagnosis, “best practice” treatment, professional training, and the facilitation of research as related to Rubinstein-Taybi syndrome. [top] Diagnosis “Best Practice” Treatment: The Center is responsible for the creation of a clinical standard by which a diagnosis is determined utilizing multiple investigative tools and database questionnaires. At the request of families and/or physicians, the Center mails a packet which includes the database forms (questionnaires for both parents and physicians) and a listing of needed photos, X-rays, copies of reports from specialists, and available hospital records.

63. RTS Families Of Special Friends RTS Families Working As A Team The parents and families of individualswith rubinsteintaybi syndrome are a special group. They http://www.specialfriends.org/rtsparentswork.html

Rubinstein-Taybi Parent Group RTS E-Mailing List RTS Canada Brazil ... Parent Message Board RTS Families Working As A Team... The parents and families of individuals with Rubinstein-Taybi Syndrome are a special group. They give each other support and advice, along with sharing the triumphs of their children’s successes. This section is dedicated to all the loving families. In this section, you will find formal parent support groups, email lists, message boards, and advice given by families. You will also notice throughout the web site information provided by families. These people are extraordinary in their quests to provide what is best for their children and help each other along the way. Rubinstein-Taybi Parent Group Garry and Lorrie Baxter P.O. Box 146 Smith Center, Kansas 66967 Fax Number: 785-697-2985 Email: lbaxter@ruraltel.net The RTS Parent Group USA was established in 1984. Garry and Lorrie have four children with their third child being born with RTS in 1983. They started the parent contact group in 1984 and continue providing any help that they can to parents and professionals on caring for a child with RTS. They also provide a list of families with children with RTS for parental contact. Their group includes over 300 families in North America. Anyone needing help or information on RTS is welcome to contact Lorrie. Top RTS E-Mailing List The Rubinstein-Taybi Syndrome E-Mailing List is an "electronic" family-to-family discussion group devoted to sharing information and support concerning all aspects of Rubinstein-Taybi syndrome.

64. Searchalot Directory For Rubinstein-Taybi Syndrome Sponsored Links. Top Health Conditions and Diseases Rare Disorders RubinsteinTaybiSyndrome (4). Related Web Sites. http://www.searchalot.com/Top/Health/ConditionsandDiseases/RareDisorders/Rubinst

Home Search News Email Greetings Weather ... Global All the Internet About AltaVista AOL Search Ask Jeeves BBC Search BBC News Business Dictionary Discovery Health Dogpile CheckDomain CNN Corbis eBay Education World Employment Encyclopedia Encarta Excite Fast Search FindLaw FirstGov Google Google Groups Infomine iWon Librarians Index Looksmart Lycos Metacrawler Microsoft Northern Light Open Directory SearchEdu SearchGov Shareware Teoma Thesaurus Thunderstone WayBackMachine Webshots WiseNut Yahoo! Yahoo! Auctions Yahoo! News Yahooligans Zeal Sponsored Links Top Health Conditions and Diseases Rare Disorders : Rubinstein-Taybi Syndrome Related Web Sites 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.

65. Health Library Find Information On Rubinstein-Taybi Syndrome At rubinsteintaybi syndrome. Definition Causes, incidence, and risk factors Rubinstein-Taybisyndrome is a rare condition, affecting about 1 in 125,000 people. http://www.mercksource.com/pp/us/cns/cns_hl_adam.jspzQzpgzEzzSzppdocszSzuszSzcns

66. Rubinstein-Taybi Syndrome rubinsteintaybi syndrome. Alternative Names Rubinstein syndrome. TreatmentThere is no specific treatment for rubinstein-taybi syndrome. http://www.pennhealth.com/ency/article/001249trt.htm

Disease Injury Nutrition Poison ... Prevention Rubinstein-Taybi syndrome Alternative Names: Rubinstein syndrome Treatment: There is no specific treatment for Rubinstein-Taybi syndrome. Symptoms such as mental retardation are treated as necessary with speech and cognitive therapy. Treatment may not be necessary in all cases. Support Groups: Rubinstein-Taybi Parents Group USA 1-888-447-2989 Expectations (prognosis): The majority of children can learn to read at an elementary level. The majority have delayed motor development, but average age to learn to walk is by 2 1/2 years of age. Complications: Complications vary depending on the symptoms that are present. Feeding difficulties are common in infancy. Recurrent ear infections with hearing loss can result. Surgical repair of thumbs or great toes can sometimes improve grasp or relieve discomfort. Both abnormal heart structures at birth and abnormal heart rhythms have been reported. There is an increased risk for keloid formation of the skin. Calling your health care provider: Call for an appointment with your health care provider if you child does not seem to be developing normally. An appointment with a geneticist is appropriate if the provider finds signs of Rubinstein-Taybi syndrome such as broad thumbs and toes.

67. Rubinstein-Taybi Syndrome rubinsteintaybi syndrome. Alternative Names Rubinstein syndrome.Symptoms broad thumbs and great toes; slow development of both http://www.pennhealth.com/ency/article/001249sym.htm

Disease Injury Nutrition Poison ... Prevention Rubinstein-Taybi syndrome Alternative Names: Rubinstein syndrome Symptoms: broad thumbs and great toes slow development of both cognitive and motor skills with low muscle tone mental retardation short stature that develops after birth palpebral slant - eye slants downward pinna abnormalities and low set ears excess hair on body (hirsutism) thick and arched eyebrows with long eyelashes narrow, small, or recessed mouth with crowded teeth prominent or 'beaked' nose Signs and tests: decreased IQ in range of 30-80 hypoplastic maxilla (small jaw), narrow palate, crowded teeth an unsteady or stiff walking gait low-set ears or malformed ears ptosis drooping eyelid cataract coloboma (a defect in the iris of the eye) cryptorchidism or other testicular problems macrocephaly (excessively large head) or microcephaly (excessively small head) skeletal (limb) abnormalities including the last segment of the other fingers/toes appearing broad on x-rays or physical examination genetic testing, including deletion testing to see if the CREBB gene is missing or mutation testing Review Date: 9/13/2001 Reviewed By: David G. Brooks, M.D., Ph.D., Division of Medical Genetics, University of Pennsylvania Medical Center, Philadelphia, PA. Review provided by VeriMed Healthcare Network.

68. Rubinstein-Taybi Syndrome rubinsteintaybi syndrome. Causes and Risks rubinstein-taybi syndromeis a rare condition, affecting about 1 in 125,000 people. http://www.rwjuhh.net/Atoz/encyclopedia/article/001249.asp

For a complete list of hospital classes and events, click here to connect to HealthConnection Online Medical Encyclopedia Encyclopedia Disease R -> Rubinstein-Taybi syndrome Rubinstein-Taybi syndrome Alternate Names: Rubinstein syndrome Causes and Risks: Rubinstein-Taybi syndrome is a rare condition, affecting about 1 in 125,000 people. The proof of this disease being genetic was shown by discovery of mutations in, or loss of, a gene (CREBB) on chromosome 16 that rarely is inherited in an autosomal dominant manner. However, most cases are not inherited, rather they are sporadic and likely due to a new mutation affecting the patient, but not his or her parents. The classic finding is broad thumbs and great toes, but the condition is manifested by many other findings including: short stature , a peculiar face, low-set ears , port-wine-stain, undescended testicles in the male, and downward slant of the eyes. Prevention: There is no known prevention for this rare disorder. Prenatal genetic testing may be available if the affected parent has a known mutation. Symptoms: broad thumbs and great toes slow development of both cognitive and motor skills with low muscle tone mental retardation short stature that develops after birth palpebral slant - eye slants downward pinna abnormalities and low set ears excess hair on body (hirsutism) thick and arched eyebrows with long eyelashes narrow, small, or recessed mouth with crowded teeth

69. 12398-cpr HUMMOLGEN DIAGnostics/Clinical Research 23 October 1998 rubinstein-taybi syndrome.Is there anyone working on molecular studies of rubinstein-taybi syndrome? http://www.hum-molgen.de/clinical/231098-ncprr3.htm

HUM-MOLGEN DIAGnostics/Clinical Research 23 October 1998 Rubinstein-Taybi syndrome Is there anyone working on molecular studies of Rubinstein-Taybi syndrome? Dr. M. Pineda S. Neuropediatria 08950 Esplugues . Barcelona. Spain. pineda@HSJDBCN.ORG

70. Welcome To ENH.org - Health Encyclopedia: Rubinstein-Taybi Syndrome rubinsteintaybi syndrome. Causes, incidence, and risk factors Rubinstein-Taybisyndrome is a rare condition, affecting about 1 in 125,000 people. http://www.enh.org/Encyclopedia/ency/article/001249.asp

Disease Reference Injury Reference Test Reference Nutrition Reference ... Symptoms Reference Rubinstein-Taybi syndrome Disease Injury Nutrition Poison ... Z Definition: A genetic disease characterized by mental deficiency, broad thumbs and toes, short stature , and characteristic facial features. Alternative Names: Rubinstein syndrome Causes, incidence, and risk factors: Rubinstein-Taybi syndrome is a rare condition, affecting about 1 in 125,000 people. The proof of this disease being genetic was shown by discovery of mutations in, or loss of, a gene (CREBB) on chromosome 16 that rarely is inherited in an autosomal dominant manner. However, most cases are not inherited, rather they are sporadic and likely due to a new mutation affecting the patient, but not his or her parents. The classic finding is broad thumbs and great toes, but the condition is manifested by many other findings including: short stature , a peculiar face, low-set ears , port-wine-stain, undescended testicles in the male, and downward slant of the eyes.

71. Health Library - Rubinstein Taybi Syndrome Advanced Search. Rubinstein Taybi Syndrome. rubinsteintaybi syndrome is a raregenetic multisystem disorder that affects many organ systems of the body. http://www.stjudemedicalcenter.org/library/healthguide/IllnessConditions/topic.a

72. Publications The rubinsteintaybi syndrome and other malformations. Publications. PetrijF, Giles RH, Breuning MH, Hennekam RC. rubinstein-taybi syndrome. http://www.humgen.nl/lab-peters/RTS/publikaties.htm

The Rubinstein-Taybi syndrome and other malformations Publications Petrij F, Giles RH, Dauwerse HG, Saris JJ, Hennekam RCM, Masuno M, Tommerup N, van Ommen GJB, Goodman RH, Peters DJM, Breuning MH: Rubinstein-Taybi syndrome is caused by mutations in the transcriptional co-activator CBP. Nature Giles RH, Dauwerse HG, Higgins C, Petrij F , Wessels JW, Beverstock GC, Döhner H, Jotterand-Bellomo M, Falkenburg JH, Slater RM, van Ommen GJ, Hagemeijer A, van der Reijden BA, Breuning MH. Detection of CBP rearrangements in acute myelogenous leukemia with t(8;16). Leukemia Giles RH, Petrij F, Dauwerse JG, den Hollander AI, Lushnikova T, van Ommen GJB, Goodman RH, Deaven LL, Doggett NA, Peters DJM, Breuning MH: Construction of a 1.2-Mb contig on chromosome 16p13.3. Genomics Giles RH, Peters DJM, Breuning MH: Conjunction dysfunction: CBP/p300 in human disease. Trends in Genet Petrij F, Dorsman JC, Dauwerse HG, Giles RH, Peeters T, Hennekam RC, Breuning MH, Peters DJ. Rubinstein-Taybi syndrome caused by a De Novo reciprocal translocation t(2;16)(q36.3;p13.3). Am J Med Genet 2000; 92(1):47-52. Petrij F, Dauwerse HG, Blough RI, Giles RH, van der Smagt JJ, Wallerstein R, Maaswinkel-Mooy PD, van Karnebeek CD, van Ommen GJ, van Haeringen A, Rubinstein JH, Saal HM, Hennekam RC, Peters DJ, Breuning MH. Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations. J Med Genet 2000; 37(3):168-176.

73. Homepage Peters Lab The rubinsteintaybi syndrome and other malformations. Welcome toour pages Modified last 18/12/2002. This research is headed by http://www.humgen.nl/lab-peters/RTS/

The Rubinstein-Taybi syndrome and other malformations Welcome to our pages... Modified last 18/12/2002 This research is headed by Dr. Dorien J.M. Peters and Prof. Dr. Martijn H. Breuning . The main aims of our research are the characterization and functional analysis of genes involved malformation syndromes, particularly the Rubinstein-Taybi syndrome The other main line of research is the characterization and functional analysis of genes involved in the pathophysiology of Polycystic Kidney Disease using genetic, cellular and transgenic mouse model approaches. Publications by our group on the Rubinstin-Taybi syndrome. Publications from our laboratory in peer-reviewed journals Teaching Student projects (for students Biomedical Sciences, Medicine and Biology) Positions available There are currently no positions available. Who we are and how to contact us

74. Mioti: Medical Condition Condition rubinsteintaybi syndrome. MEDLINEplus Rubinstein-TaybiSyndrome. MEDLINEplus NORD Rubinstein Taybi Syndrome. Information http://www.mioti.com/cat/condition/condition.asp?Cat=RubinsteinTaybi

75. Health Library - Rubinstein Taybi Syndrome Hometown commitment. Rubinstein Taybi Syndrome. rubinsteintaybi syndrome is a raregenetic multisystem disorder that affects many organ systems of the body. http://www.phoebeputney.com/library/healthguide/IllnessConditions/topic.asp?hwid

76. SpringerLink: European Radiology - Abstract Volume 9 Issue 3 (1999) Pp 483-484 Abstract Volume 9 Issue 3 (1999) pp 483484. pediatric radiology Bilateral extratarsal bones in rubinstein-taybi syndrome the fourth cuneiform bones. RN Sener. http://link.springer-ny.com/link/service/journals/00330/bibs/9009003/90090483.ht

European Radiology ISSN: 0938-7994 (printed version) ISSN: 1432-1084 (electronic version) Table of Contents Abstract Volume 9 Issue 3 (1999) pp 483-484 pediatric radiology : Bilateral extra tarsal bones in Rubinstein-Taybi syndrome: the fourth cuneiform bones R. N. Sener Department of Radiology, Ege University Hospital, Bornova, T-35100 Izmir, Turkey Received: 13 January 1998; Accepted: 30 April 1998 Abstract. Rubinstein-Taybi syndrome is a syndrome of mental retardation associated with digital changes, consisting mainly of broad thumbs and large toes. This paper deals with pedal changes in a patient with this syndrome in whom bilateral, large, extra tarsal bones occurred between the medial cuneiform and intermediate cuneiform bones. They articulated with these bones, as well as with the first and the second metatarsals. It is suggested that these extra tarsal bones be labelled as the fourth cuneiform bones (os cuneiformis IV). To the best of the author's knowledge, such an extra tarsal bone has never been reported in humans or other mammalians. One could speculate that they orginated from bilateral extra ossification centers or from an isolated, accelerated ossification and extreme enlargement of the so-called os intercuneiforme, a supernumerary ossicle, in this patient with Rubinstein-Taybi syndrome. Key words: Article in PDF format (86 KB) Online publication: March 19, 1999

77. ENLmedical.com: Conditions And Concerns: Medical Encyclopedia: Rubinstein-Taybi Table of content. rubinsteintaybi syndrome. Causes Treatment Thereis no specific treatment for rubinstein-taybi syndrome. Symptoms http://www.enlmedical.com/article/001249.htm

Medical Dictionary Naturapathic Glossary Aphrodisiacs Immune System ... Table of content Rubinstein-Taybi syndrome Causes and Risks: Rubinstein-Taybi syndrome is a rare condition that may be genetic in nature but whose heritability has not been demonstrated. The classic finding is broad thumbs and great toes but the condition is manifested by many other findings including short stature , a peculiar face, low-set ears , port-wine-stain, undescended testicles in the male, and downward slant of the eyes. Prevention: There is no known prevention for this rare disorder. Symptoms: broad thumbs and great toes slow mental development mental retardation short stature palpebral slant - eye pinna abnormalities and low set ears ... skeletal (limb) abnormalities Signs and Tests: decreased IQ hypoplastic maxilla (small jaw) narrow palate low-set ears or malformed ears ptosis drooping eyelid cataract coloboma (a defect in the iris of the eye) cryptorchidism or other testicular problems macrocephaly (excessively large head) or microcephaly (excessively small head) Treatment: There is no specific treatment for Rubinstein-Taybi syndrome. Symptoms such as

78. EnableNet - Enablenet.browse.browse Intellectual and Developmental rubinsteintaybi syndrome rubinstein-taybi syndrome Matching Resources. Records 1-2 of 2 http://www.enable.net.au/index.cfm?fuseaction=enablenet.browse.browse&catid=2379

79. Directory :: Look.com rubinsteintaybi syndrome (4) See Also. rubinstein-taybi syndrome A sitedevoted to the families and people diagnosed with this syndrome. http://www.look.com/searchroute/directorysearch.asp?p=524236

80. Rubinstein-taybi, Syndrome : Arborescences MeSH Translate this page rubinstein-taybi, syndrome. Noonan, syndrome C05.660.207.690 page CISMeF du motclefrubinstein-taybi, syndrome C05.660.207.850 page CISMeF du motclef http://www.chu-rouen.fr/navimesh/navirubinsteintaybisyndrome.html

Rubinstein-taybi, Syndrome : arborescences MeSH Menu général CISMeF Vous pouvez aussi consulter toutes les arborescences des mots clés utilisés dans CISMeF appareil locomoteur, maladies os, maladies dysplasies os dysostoses ... Zellweger, syndrome 27 février 2003 courriel Menu général CISMeF Haut de page © CHU de Rouen . Toute utilisation partielle ou totale de ce document doit mentionner la source.

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