21. EMedicine - Rubinstein-Taybi Syndrome : Article By Djordjije Karadaglic, MD, DSc rubinsteintaybi syndrome. Background In 1963, Rubinstein and Taybi first describedrubinstein-taybi syndrome (RTS; Mendelian Inheritance in Man MIM no. http://www.emedicine.com/derm/topic711.htm

(advertisement) Home Specialties CME PDA ... Patient Education Articles Images CME Patient Education Advanced Search Link to this site Back to: eMedicine Specialties Dermatology Pediatric Diseases Rubinstein-Taybi Syndrome Last Updated: November 20, 2001 Rate this Article Email to a Colleague Synonyms and related keywords: broad thumb-hallux syndrome AUTHOR INFORMATION Section 1 of 10 Author Information Introduction Clinical Differentials ... Bibliography Author: Djordjije Karadaglic, MD, DSc , President of Yugoslav Association of Dermatology and Venereology, President of Belgrade Dermatology Days; Professor, Head, Department of Dermatology and Venereology, Military Medical Academy of Belgrade, Yugoslavia Coauthor(s): Ljubomir Stojanov, MD, PhD , Director of Pediatric Clinic, Mother and Child Health Care Institute, Lecturer, Head, Department of Metabolic and Genetic, University of Belgrade School of Medicine, Yugoslavia; Zeljko P Mijuskovic, MD , Consulting Staff, Department of Dermatology and Venereology, Military Medical Academy, Belgrade Editor(s): Mark A Crowe, MD

22. EMedicine - Rubinstein-Taybi Syndrome : Article By Sulagna C Saitta, MD, PhD rubinsteintaybi syndrome. Last Updated March 27, 2002, FULL DISCLAIMER.rubinstein-taybi syndrome excerpt. © Copyright 2003, eMedicine.com, Inc. http://www.emedicine.com/PED/topic2026.htm

(advertisement) Home Specialties CME PDA ... Patient Education Articles Images CME Patient Education Advanced Search Link to this site Back to: eMedicine Specialties Pediatrics Genetics And Metabolic Disease Rubinstein-Taybi Syndrome Last Updated: March 27, 2002 Rate this Article Email to a Colleague Synonyms and related keywords: RSTS, Rubinstein syndrome, distinctive facies, prominent nose, mental retardation, broad thumbs, broad great toes, OMIM #180849, growth retardation, feeding difficulties, failure to thrive, respiratory infections, congenital heart disease, developmental delay AUTHOR INFORMATION Section 1 of 10 Author Information Introduction Clinical Differentials ... Bibliography Author: Sulagna C Saitta, MD, PhD , Fellow, Department of Pediatrics, Division of Human Genetics, Children's Hospital of Philadelphia Coauthor(s): Ian Krantz, MD , Assistant Professor, Department of Pediatrics, University of Pennsylvania and Children's Hospital of Philadelphia Sulagna C Saitta, MD, PhD, is a member of the following medical societies: American Academy of Pediatrics , and American Society of Human Genetics Editor(s): Elaine H Zackai, MD

23. Health Library - Rubinstein Taybi Syndrome Rubinstein Taybi Syndrome. None. General Discussion. rubinsteintaybi syndrome isa rare genetic multisystem disorder that affects many organ systems of the body. http://health_info.nmh.org/Library/HealthGuide/IllnessConditions/topic.asp?hwid=

24. Associação Rubinstein-Taybi Síndrome Translate this page Links. rubinstein-taybi syndrome (site internacional) rubinstein-taybi syndromeDatabase rubinstein-taybi syndrome (+ informações em Português) Imagens de http://doctorbbs.com/ipes/arts2.html

Objetivos da ARTS Auxiliar os pais, tirando todas as dúvidas a respeito da síndrome. Divulgação e melhor diagnóstico da síndrome em todo o Brasil. Futuramente, trazer cientistas e profissionais da área da Saúde que possam dar palestras mais detalhadas de estudos recentes sobre a SRT. Reunir pais e catalogar as crianças, ocorrendo uma interação entre todos para um conhecimento melhor da síndrome. Integração da criança com SRT à sociedade. Objetivos da Comissão Científica da ARTS Aplicar a técnica de tratamento da monografia em crianças com SRT, o mais precoce possível. Melhorar o padrão de vida, tornando-a independente, consequentemente melhora a auto-estima da criança. Alfabetização através de um trabalho lúdico. Meios que podem ser utilizados NA FONOAUDIOLOGIA - valorizar a estimulação musical, identificação e fluência verbal, vocabulário, memória verbal, sons das letras do alfabeto, linguagem oral, identificação de ritmos e fontes sonoras, compreensão da palavra, memória musical, ... NA PSICOPEDAGOGIA - verbalizar sentimentos e emoções, sociabilidade, poder do conhecimento e linguagem corporal; desenvolver a concentração, exploração e descobertas do mundo; estimular a criança a interagir com histórias ouvidas, estimular a descoberta de ruídos,...

25. 782 Rubinstein-Taybi Syndrome With Hepatoblastoma. rubinsteintaybi syndrome with hepatoblastoma. We report a two-year old male patient,with rubinstein-taybi syndrome, phenylketonuria and hepatoblastoma. http://www.faseb.org/genetics/ashg99/f782.htm

26. 1669 I CBP /i Mutation Detection Of The Rubinstein-Taybi Program Nr 1669 CBP mutation detection of the rubinsteintaybi syndromefor diagnostic purposes. RH Giles 1 , JG Dauwerse 1 , RI http://www.faseb.org/genetics/ashg99/f1669.htm

27. Avera Health - Rubinstein-Taybi Syndrome rubinsteintaybi syndrome. Definition Causes, incidence, and risk factors Rubinstein-Taybisyndrome is a rare condition, affecting about 1 in 125,000 people. http://www.avera.org/adam/ency/article/001249.htm

Disease Injury Nutrition Poison ... Polydactyly - an infant's hand Rubinstein-Taybi syndrome 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. 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

28. Kprones RubinsTaybiID10063 rubinsteintaybi syndrome (RTS). Identity. rubinstein-taybi syndrome in the Netherlands.Hennekam RC, van den Boogaard MJ, Sibbles BJ, van Spijker HG. http://www.infobiogen.fr/services/chromcancer/Kprones/RubinsTaybiID10063.html

Atlas of Genetics and Cytogenetics in Oncology and Haematology Home Genes Leukemias Solid Tumours ... NA Rubinstein-Taybi syndrome (RTS) Identity Note The Rubinstein-Taybi syndrome is a well-defined entity characterized by growth and mental retardation, broad thumbs and halluces, typical face, and various malformations. Other names Broad thumb ­ hallux syndrome Inheritance The prevalence at birth was estimated to be 1 in 125,000 living newborn infants. RTS is caused by an autosomal dominant mutation. Clinics Phenotype and clinics The main clinical features of RTS are facial dysmorphism, broad thumbs, broad big toes, and growth and mental retardation. The facial appearance is different in the newborn, but the most striking facial features in childhood include microcephaly, downslanting palpebral fissures, prominent and beaked nose with low nasal septum, highly arched palate, and mild micrognathia. Broad thumbs and broad halluces are present in almost all cases. Other extremities abnormalities include angulation deformities of the thumbs and halluces, broad distal phalanges of other fingers, clinodactyly of the 5th finger, persistent fetal fingertip pads and overlapping toes. Growth retardation is generally marked during infancy with feeding problems, and with a tendency to overweight in later childhood and adulthood. Constipation, recurrent upper respiratory infections and conjunctivitis are frequent problems in infancy.

29. Health Library - Rubinstein Taybi Syndrome Rubinstein Taybi Syndrome. None. General Discussion. rubinsteintaybi syndrome isa rare genetic multisystem disorder that affects many organ systems of the body. http://www.laurushealth.com/Library/HealthGuide/IllnessConditions/topic.asp?hwid

30. Entrez-PubMed Cardiac abnormalities in the rubinsteintaybi syndrome. Incidence; Infant; Male;Questionnaires; rubinstein-taybi syndrome/pathology*; United States/epidemiology. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=8

31. Arts - Associação Rubinstein-taybi Syndrome Translate this page O conteúdo deste site não pode ser reproduzido sem prévia autorizaçãode ARTS-ASSOCIAÇO rubinstein-taybi syndrome. http://www.artsbrasil.org.br/fase2/principal.asp

São Paulo, 31 de março de 2003 Clique no botão PLAY para conhecer um pouco sobre a ARTS ! Hoje somos portadores de RTS Uma imagem vale mais que mil palavras. Leia os depoimentos que os pais fizeram sobre seus filhos. Clique aquí para busca detalhada ARTS Rua Harmonia 722/81 CEP 05435-000 São Paulo-SP Brasil arts@artsbrasil.org.br I ENCONTRO BRASILEIRO SOBRE A SÍNDROME DE RUBINSTEIN-TAYBI I ENCONTRO PELA PARCERIA SOCIAL Veja o que a ARTS oferece: Conferência Internacional sobre a Síndrome de Rubinstein-Taybi 10 a 13 de julho de 2003 Children´s Hospital Medical Center Cincinnati - USA Bate-Papo semanal PARTICIPE !!! Todo Domingo 21:00 as 22:00 horas Bruna P. Venturini Hortolândia-SP 2 de março Manuel Punta Del LesteUruguai 5 de março José A. P. Gomes Siqueira Paraíba-PB 8 de março Wagner Rutyna Mattar Curitiba-PR 12 de março Hallison J.S. Nascimento São Paulo-SP 22 de março João Guilherme Carias Nunes da Silva 27 de março Bianca Argentina 1 de abril Guilherme Guerra Brandão Escócia 5 de abril Geovanna C. S. Oliveira São Paulo-SP 11 de abril Vitória Muñoz São Paulo-SP 16 de abril Vitório V. Fontana Jr.

32. ORPHANET® : Rubinstein-Taybi Syndrome Translate this page ORPHANET. ORPHANET database access. Rubinstein-Taybisyndrome. Direct access to details Alias Home Page. http://www.orpha.net/static/GB/rubinstein_taybi.html

ORPHANET database access Rubinstein-Taybi syndrome Direct access to details Alias : Home Page

33. Health Library - Rubinstein-Taybi Syndrome rubinsteintaybi syndrome. Self Help Clearinghouse. Founded 1984.Mutual support, informationand sharing for parents of children with rubinstein-taybi syndrome. http://bhagh.nhshealth.org/Library/HealthGuide/SelfHelp/topic.asp?hwid=shc29rts

34. Health Library - Rubinstein-Taybi Syndrome rubinsteintaybi syndrome. Self Help Clearinghouse. Founded 1984.Mutual support, informationand sharing for parents of children with rubinstein-taybi syndrome. http://yalenewhavenhealth.org/Library/HealthGuide/SelfHelp/topic.asp?hwid=shc29r

35. Rubinstein-Taybi Syndrome From Pediatrics / Genetics And Metabolic Disease eMedicine Journal Pediatrics Genetics And Metabolic Disease RubinsteinTaybiSyndrome Synonyms, Key Words, and Related Terms RSTS, Rubinstein syndrome http://author.emedicine.com/ped/topic2026.htm

eMedicine Journal Pediatrics Genetics And Metabolic Disease Rubinstein-Taybi Syndrome Synonyms, Key Words, and Related Terms: RSTS, Rubinstein syndrome, distinctive facies, prominent nose, mental retardation, broad thumbs, broad great toes, OMIM #180849, growth retardation, feeding difficulties, failure to thrive, respiratory infections, congenital heart disease, developmental delay Author Information Introduction Clinical Differentials ... Bibliography AUTHOR INFORMATION Section 1 of 11 Authored by Sulagna C Saitta, MD, PhD , Fellow, Department of Pediatrics, Division of Human Genetics, Children's Hospital of Philadelphia Coauthored by Ian Krantz, MD , Assistant Professor, Department of Pediatrics, University of Pennsylvania and Children's Hospital of Philadelphia Sulagna C Saitta, MD, PhD, is a member of the following medical societies: American Academy of Pediatrics , and American Society of Human Genetics Edited by Elaine H Zackai, MD , Director of Clinical Genetics Center, Professor of Pediatrics, Department of Pediatrics, Division of Human Genetics and Molecular Biology, University of Pennsylvania, Children's Hospital of Philadelphia; Robert Konop, PharmD

36. Health Information Resource Database: Rubinstein-Taybi Parent Group Abstract. The RubinsteinTaybi Parent Group was established in 1984 to providea support network for parents of children with rubinstein-taybi syndrome. http://www.health.gov/NHIC/NHICScripts/Entry.cfm?HRCode=HR2425

37. Database Search Results Database Search Results. Searched keywords for RubinsteinTaybiSyndrome. Rubinstein-Taybi Parent Group. NHIC Home Page http://www.health.gov/NHIC/NHICScripts/Hitlist.cfm?Keyword=Rubinstein-Taybi Synd

38. Rubinstein-Taybi Syndrome : Meddie Health Search ITEMS LINKS HealthWise Knowledgebase An article about rubinsteintaybi syndrome,a general discussion, symptoms, causes, incidence, treatment and resources. http://www.meddie.com/search/Health/Conditions_and_Diseases/Rare_Disorders/Rubin

HOME ADD A LINK MODIFY A LINK NEW LINKS ... TOP RATED Search Meddie: the entire directory only this category More search options Home Health Conditions and Diseases ... Rare Disorders : Rubinstein-Taybi Syndrome ITEMS: LINKS: HealthWise Knowledgebase An article about Rubinstein-Taybi syndrome, a general discussion, symptoms, causes, incidence, treatment and resources. (Rating: 0.00 Votes: 0) Rate It Pediatric Database An in depth look at rubinstein-taybi syndrome beginning with a definition, on to epidemiology, pathogenesis, clinical features, investigations and management. (Rating: 0.00 Votes: 0) Rate It Rubinstein-Taybi Syndrome A site devoted to the families and people diagnosed with this syndrome. (Rating: 0.00 Votes: 0) Rate It 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. (Rating: 0.00 Votes: 0) Rate It HOME ADD A LINK MODIFY A LINK ... Design © ISC Enterprises Inc.

39. Pap9814.html Ocular Findings in rubinsteintaybi syndrome. Laurie Hahn-Parrott CO,COT ConstanceE. West MD Miles J. Burke MD. Children's Hospital Medical Center Cincinnati OH. http://med-aapos.bu.edu/AAPOS1999/post9956.html

Ocular Findings in Rubinstein-Taybi Syndrome Laurie Hahn-Parrott C.O.,C.O.T. Constance E. West M.D. Miles J. Burke M.D. Children's Hospital Medical Center Cincinnati OH INTRODUCTION: Rubinstein-Taybi syndrome consists of characteristic facial anomalies and multiple eye abnormalities. METHODS: The authors preformed eye examinations on 37 children in July 1998, during the Second International Symposium on Rubinstein-Taybi (RTS) syndrome. This is the largest on- going study of suspected RTS children. DISCUSSION: The data collected were compiled and compared to existing information in the literature, and to the data collected during the First International Rubinstein-Taybi Symposium. Ocular findings included arched brows, antimongoloid slant, long lashes, heavy eyebrows, and strabismus and are consistent with existing literature. However, anisometropia was also a frequent finding. This has not been noted in the past. CONCLUSIONS: Children with Rubinstein-Taybi syndrome have many characteristic facial and ocular anomalies including arched brows, antimongoloid slant, long lashes, heavy brows and strabismus. REFERENCES: Jones, K.L., Smith's Recognizable Patterns of Human Malformation, W.B. Saunders Co., Philadelphia, Pa. 1997.

40. Rubinstein-Taybi Syndrome - Overview rubinsteintaybi syndrome. rubinstein-taybi syndrome is a rare condition thatmay be genetic in nature but whose heritability has not been demonstrated. http://www.wfubmc.edu/besthealth/ency/article/001249.htm

Disease Injury Nutrition Poison ... Prevention Rubinstein-Taybi syndrome Definition: A disease of unknown origin characterized by marked mental deficiency, broad thumbs and toes, and short stature Causes, incidence, and risk factors: 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. Acquired On: 1/1/97 Acquired From: Mosby Publishing Company The information provided herein should not be used for diagnosis or treatment of any medical condition. It is provided for your general information and is not a substitute for medical care or supervised medical treatment. A licensed physician should be consulted for diagnosis and treatment of any and all medical conditions. adam.com is a founding member of Hi-Ethics (http://www.hiethics.com)

A  B  C  D  E  F  G  H  I  J  K  L  M  N  O  P  Q  R  S  T  U  V  W  X  Y  Z

Page 2     21-40 of 93    Back | 1  | 2  | 3  | 4  | 5  | Next 20