61. 1908: Costello Syndrome: Report Of Eight Patients Including One With A Rhabdomyo Program Nr 1908 costello syndrome report of eight patients including one with a rhabdomyosarcoma. NM Philip 1 , S. Sigaudy 1 , D http://www.faseb.org/genetics/ashg99/f1908.htm

Program Nr: 1908 Costello syndrome: report of eight patients including one with a rhabdomyosarcoma. N.M. Philip , S. Sigaudy , D. Lacombe , G. Vittu , A. David , J. Vigneron , A. Moncla 1) Dept de Genetique Medicale, Hosp d'Enfants de la Timone, Marseille, Cedex 5, France; 2) Service de Genetique, Groupe Hospitalier Pellegrin, Bordeaux cedex, France; 3) Service de Neonatologie, centre Hosp Feron-Vrau, Lille cedex, France; 4) Service de Genetique Medicale, Hotel-Dieu, Nantes cedex 1, France; 5) Maternite Regionale A Pinard, Nancy cedex, France. Costello syndrome is now a well delineated congenital disorder, characterized by post-natal growth retardation, dysmorphism and mental retardation. Most cases are sporadic and a significant increase of mean paternal age has been reported, suggesting de novo dominant mutations. Besides papillomata, which were part of the initial description, patients tend to develop benign tumors of ectodermal origin. We report eight new patients with typical clinical findings and emphasize the importance of cardiac manifestations and the tendency to develop tumors. Seven out of the eigth children exhibited hypertrophic cardiomyopathy. One patient developed an embryonal rhabdomyosarcoma. Occurence of that type of tumor has already been reported twice in the literature. We suggest there might be a causal link between the development of such a rare tumor and this genetic disorder. A point mutation or a microdeletion in a tumor-suppressor gene could be involved in Costello syndrome.

62. Costello Syndrome From Linkspider UK Health Directory costello syndrome by Linkspider UK, costello syndrome links and costello syndrome topics from our Health directory. Helping you http://linkspider.co.uk/Health/ConditionsandDiseases/GeneticDisorders/CostelloSy

Match » -All words -Any word -Exact text Search » The Web Jobs / Vacancy Images / Photos FTP / Downloads United Kingdom United States of America Argentina Austria Australia Bangladesh Belgium Bolivia Brazil Bulgaria Canada Chile China Cuba Cyprus Czech Republic Czechoslovakia Denmark Dominican Republic Ecuador Egypt Estonia Finland France Germany Ghana Greece Hong Kong Hungary Iceland India Indonesia Ireland Israel Italy Japan Jordan Kenya Kuwait Latvia Lithuania Luxembourg Malaysia Malta Mexico Moldavia Monaco Morocco Mozambique Nepal Netherlands New Zealand Nicaragua Nigeria North Korea Norway Pakistan Panama Paraguay Peru Philippines Poland Portugal Qatar Romania Russian Federation Saudi Arabia Singapore South Africa South Korea Spain Sri Lanka Sweden Switzerland Taiwan Tanzania Thailand Tunisia Turkey Ukraine United Arab Emirates Uruguay Venezuela Yemen Yugoslavia Zambia Zimbabwe Ranking » On (no duplicate) Off (allow duplicate) Add my Site Toolbar Affiliates Directory Topic Costello Syndrome assoicated to Health Directory Tree: Top Health Conditions and Diseases Genetic Disorders : Costello Syndrome ( See Also: Health: Conditions and Diseases: Rare Disorders Online Mendelian Inheritance in Man: Costello Syndrome - References, gene map, and clinical synopsis.

63. Wauu.DE: Health: Conditions And Diseases: Genetic Disorders: Costello Syndrome MedHelp Details about the International costello syndrome Support Group. Includes contact details. Groups An email group about costello syndrome. http://www.wauu.de/Health/Conditions_and_Diseases/Genetic_Disorders/Costello_Syn

Home Health Conditions and Diseases Genetic Disorders : Costello Syndrome Search DMOZ-Verzeichnis: All Categories Categories Onlye Links: MedHelp Details about the International Costello Syndrome Support Group. Includes contact details. http://medhlp.netusa.net/amshc/amshc312.htm NORD - Costello Syndrome The synonyms, a general discussion and further resources. Yahoo! Groups An email group about Costello syndrome. Join, post and read mail. http://groups.yahoo.com/group/costello_syndrome/ © 1998- 2002 Ein Service von Wauu.de UserNet.DE Linktip: MnogoSearch.ORG Map TopTen TopTen eng Aktuelle Linktips Mozilla 1.7 RC 1 Basteln 0190 Warner Free Rund ums Rad ... Fantasy - Shop Webmaster-Links Webspace Free Subdomain Service Merchandise Fun SUMA - Forum ... Abmahnungen œber Wauu Regeln Webmasterservice Impressum b

64. Mental Retardation, Directory costello syndrome (FCS). costello syndrome, OMIM costello syndrome, Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes http://www.saunalahti.fi/kup/engl/webs_c.html

Finnish Information Center on Mental Retardation English links A B C D ... Z CAHMR Syndrome cataract-hypertrichosis-mental retardation (CAHMR) syndrome, Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes 211770 CAHMR SYNDROME, OMIM Cataract hypertrichosis mental retardation, Orphanet CAMFAK Syndrome 212540 CATARACT, MICROCEPHALY, FAILURE TO THRIVE, KYPHOSCOLIOSIS SYNDROME, OMIM CAMFAK (cataract-microcephaly-failure to thrive-kyphoscoliosis) syndrome, Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes Cantú Syndrome Cantú syndrome, Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes 308830 KERATOSIS FOLLICULARIS, DWARFISM, AND CEREBRAL ATROPHY, OMIM Keratosis follicularis dwarfism cerebral atrophy, Orphanet Cardiofaciocutaneous Syndrome Cardiofaciocutaneous Syndrome, NORD Cardiofaciocutaneous Syndrome, OMIM cardiofaciocutaneous (CFC) syndrome, Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes CFC Family Network Inc. ... Reynolds-Neri-Herrmann syndrome (James F. Reynolds), Whonamedit Carnevale Syndrome PTOSIS OF EYELIDS WITH DIASTASIS RECTI AND HIP DYSPLASIA, Online Mendelian Inheritance in Man

65. NRCA | Center Services | Products & Services Directory | Organizational Member P Organizational Member Profile. North American costello syndrome Family Network. Contact education. To collate research of costello syndrome. http://www.nonprofit-al.org/directory/org_profile.asp?id=1589

66. J Med Genet -- Abstracts: Pratesi Et Al. 35 (1): 54 Download to Citation Manager. Journal of Medical Genetics, 1998, Vol 35, 5457. ARTICLES. costello syndrome in two Brazilian children. http://jmg.bmjjournals.com/cgi/content/abstract/35/1/54

HOME HELP FEEDBACK SUBSCRIPTIONS ... Email this link to a friend eLetters: Submit a response to this article Similar articles found in: J Med Genet PubMed PubMed Citation This Article has been cited by: other online articles Search PubMed for articles by: Pratesi, R. Ferrari, I. Alert me when: new articles cite this article Download to Citation Manager Journal of Medical Genetics, 1998, Vol 35, 54-57 ARTICLES Costello syndrome in two Brazilian children R Pratesi, M Santos and I Ferrari Universidade de Brasilia, Faculdade de Ciencias da Saude, Departamento de Pediatria, Brasilia, DF, Brazil. The increasing number of children with Costello syndrome described world wide has helped in delineating further the characteristic features of this condition. We report here two children, seen in the Genetic Division of the Brasilia University Hospital, showing the main features of the syndrome: "coarse" face, redundant skin on the feet and hands, hyperextensible hand and finger joints, curly hair, growth and psychomotor retardation, and feeding problems. In addition, one of the patients developed hydrocephalus

67. J Med Genet -- Abstracts: Kerr Et Al. 35 (12): 1036 ARTICLES. costello syndrome two cases with embryonal rhabdomyosarcoma. Genet. Home page M. FEINGOLD costello syndrome and rhabdomyosarcoma J. Med. http://jmg.bmjjournals.com/cgi/content/abstract/35/12/1036

HOME HELP FEEDBACK SUBSCRIPTIONS ... Email this link to a friend eLetters: Submit a response to this article Similar articles found in: J Med Genet PubMed PubMed Citation This Article has been cited by: other online articles Search PubMed for articles by: Kerr, B. Donnai, D. Alert me when: new articles cite this article Download to Citation Manager Journal of Medical Genetics, 1998, Vol 35, 1036-1039 ARTICLES Costello syndrome: two cases with embryonal rhabdomyosarcoma B Kerr, OB Eden, R Dandamudi, N Shannon, O Quarrell, A Emmerson, E Ladusans, M Gerrard and D Donnai North West Regional Genetic Service, St Mary's Hospital, Manchester, UK. Costello syndrome is a well delineated mental retardation syndrome of unknown aetiology in which the occurrence of benign tumours, especially papillomata, is recognised. We report two children in whom the diagnosis of Costello syndrome was made in the first months of life, who both developed a retroperitoneal embryonal rhabdomyosarcoma. Although not previously reported, the occurrence of this relatively uncommon childhood tumour in

68. Blackwell Synergy - Cookie Absent x. costello syndrome. THE SYNDROME PAGE. costello syndrome. Discussion, Go to Choose, http://www.blackwell-synergy.com/links/doi/10.1046/j.1525-1470.2003.20518.x/abs/

Home An Error Occurred Setting Your User Cookie A cookie is a small amount of information that a web site copies onto your hard drive. Synergy uses cookies to improve performance by remembering that you are logged in when you go from page to page. If the cookie cannot be set correctly, then Synergy cannot determine whether you are logged in and a new session will be created for each page you visit. This slows the system down. Therefore, you must accept the Synergy cookie to use the system. What Gets Stored in a Cookie? Synergy only stores a session ID in the cookie, no other information is captured. In general, only the information that you provide, or the choices you make while visiting a web site, can be stored in a cookie. For example, the site cannot determine your email name unless you choose to type it. Allowing a web site to create a cookie does not give that or any other site access to the rest of your computer, and only the site that created the cookie can read it. Please read our for more information about data collected on this site.

69. Blackwell Synergy - Cookie Absent in CFC syndrome (recently shown to be a variant of Noonan syndrome) emphasizing diagnostic criteria and its differentiation from the costello syndrome. http://www.blackwell-synergy.com/links/doi/10.1111/j.1468-3083.2004.00365.x/enha

Home An Error Occurred Setting Your User Cookie A cookie is a small amount of information that a web site copies onto your hard drive. Synergy uses cookies to improve performance by remembering that you are logged in when you go from page to page. If the cookie cannot be set correctly, then Synergy cannot determine whether you are logged in and a new session will be created for each page you visit. This slows the system down. Therefore, you must accept the Synergy cookie to use the system. What Gets Stored in a Cookie? Synergy only stores a session ID in the cookie, no other information is captured. In general, only the information that you provide, or the choices you make while visiting a web site, can be stored in a cookie. For example, the site cannot determine your email name unless you choose to type it. Allowing a web site to create a cookie does not give that or any other site access to the rest of your computer, and only the site that created the cookie can read it. Please read our for more information about data collected on this site.

70. Mioti: Diseases + Conditions Diseases + Conditions costello syndrome. Search Mioti http://www.mioti.com/cat/condition/condition.asp?Cat=CostelloSyndrome

71. Costello Syndrome costello syndrome Directory Guide to costello syndrome sites on the internet. costello syndrome. http://www.directory.net/Health/Conditions_and_Diseases/Genetic_Disorders/Costel

Costello Syndrome Directory: Guide to Costello Syndrome sites on the internet. Search Engines: Google Yahoo MSN FindWhat ... City Guides Costello Syndrome Health Conditions and Diseases Genetic Disorders Costello Syndrome Websites Online Mendelian Inheritance in Man: Costello Syndrome http://www.ncbi.nlm.nih.gov/htbin-post/omim/dispmim?218040 References, gene map, and clinical synopsis. Costello Kids http://www.costellokids.co.uk/ Official site of the International Costello Syndrome Support Group. Includes medical information, photographs and videos, therapy ideas, news, and links. Got eight minutes? Join in and participate in Stanford's Web Credibility Project's latest study. Help build the largest human-edited directory on the web. Submit a Site Open Directory Project Become an Editor The content of Directory.NET is based on the Open Directory. It has been enhanced and modified by Directory.NET using proprietary technology. Directory.NET All Rights Reserved

72. ZapMeta Directory > Health > Conditions And Diseases > Genetic Disorders > Coste Web Sites in Category costello syndrome Display results 1 2 of 2 matches. Official site of the International costello syndrome Support Group. http://www.zapmeta.com/search/meta/db.pl?dir=550354

73. The Medword List - Medical Transcription Directory - The Medword List - Conditio and more, search medword. Top Level Conditions and Diseases Genetic Disorders costello syndrome. WAVpedal foot pedal serial or http://www.medwordlist.com/Conditions_and_Diseases/Genetic_Disorders/Costello_Sy

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74. CFC Family Network seen in patients in Salt Lake City, it was quite clear that some were typical examples of CFC, others of Noonan and others of costello syndrome, however in http://www.cfcsyndrome.org/archives_2000_kavaruma.htm

Conference 2000 Dr. Kavamura´s Post Conference Letter The CFC conference in Salt Lake City last July was definitely one of the hot spots of the year, I'm very glad I was able to attend and really grateful for the invitation to address the dermatological area. It was only in 1993, after my residence training in dermatology, that I got to know about CFC. I had decided to specialize in genetic skin diseases and met the first CFC patients at the Medical Genetical Center of Universidade Federal de São Paulo, where I still work. Dr. Decio Brunoni, the head of the department, had seen CFC patients since the early 80s and was my advisor for the Master thesis about CFC syndrome. CFC, Noonan and Costello share many common features and symptoms and are definitely differential diagnosis of each other. Out of the wide range of clinical manifestations seen in patients in Salt Lake City, it was quite clear that some were typical examples of CFC, others of Noonan and others of Costello syndrome, however in many cases it was not easy, or even not possible, to differentiate CFC from Noonan, CFC from Costello or Noonan from Costello. Data on clinical evolution was a very important point of the conference. Adolescent faces have different features and it's important to document the changes. As we are more used to the baby or pre-school face of these syndromes, it was very educative to compare old pictures to the teen's faces, which will help us in the diagnosis of older patients in future.

75. CFC Family Network Dr. Carey was a wealth of knowledge on costello syndrome and how closely it is related to CFC Syndrome. We were also fortunate enough http://www.cfcsyndrome.org/archives_2000_director.htm

Conference 2000 Message from our Director Families from Australia, England, Germany, and the USA joined together with doctors from Brazil, Italy, USA, and Canada to learn and share information on the very rare CFC Syndrome. The opening night speeches featured Dr. Opitz and Dr. Neri sharing the history of CFC Syndrome as well as the comparisons of CFC to Costello and Noonan Syndromes. We all learned that without the identifying genes identifying these very closely related syndromes that often the manifestations are very close. The highlights from Dr. Noonan's Friday presentation showed us that all three syndromes had the same type of heart defects. She presented case studies from her many years of experiences with the Noonan Syndrome to explain the different types of cardiology defects that might occur with these syndromes and how the patients were treated. It is important that each CFC patient have a cardiology appointment if this has not been done. Dr. Kavamura shared her data with us from her thesis study on CFC Syndrome and the skin manifestations. Dr. Carey was a wealth of knowledge on Costello Syndrome and how closely it is related to CFC Syndrome. We were also fortunate enough to have Colin Stone from England attend to represent his Costello Kids Family Support Group and Wanda Robinson from Maryland representing The Noonan Syndrome Support Group. On Saturday we all rode buses over to Primary Children's Medical Center where the children and parents were kept very busy with a non-stop schedule. Height and weights were obtained as well as head imaging done with a special machine for Dr. Allanson's studies. Dr. Noonan saw each child for cardiology, Dr. Allanson for head measurements, Dr. Kavamura for dermatology advice and a geneticist. Blood draws were done on all biological parents and children. This was the least popular station! Even with the door closed you could hear Cliffy screaming at all ends of the floor! DNA was obtained for further research once we can all raise enough funds for this. All parents met with Dr. Eric Rosenthal to review patient rights for research.

76. Health Library - groups. costello syndrome. This International costello syndrome Support Group. International network. Founded 1996. Mutual support http://myhealth.barnesjewish.org/library/healthguide/selfhelp/topic.asp?hwid=shc

77. FORMULAIRE INSCRIPTION RECHERCHE WWW.LACHAINETTE.COM Contacts Rare disease selected costello syndrome Id, First name, Country, Web. 891, Colin, UNITED KINGDOM, http//www.costellokids.co.uk. 1919, Sofia, ITALY, http://www.lachainette.com/US/ContactsPathologie.php?Action=contacter&Id=3610

78. Support Group Resources International costello syndrome Support Group costello syndrome is a very rare genetic disorder with approximately 150 reported cases world wide. http://www.kansas.net/~cbaslock/osupp.html

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79. Health Library Birth. International costello syndrome Support Groupcostello syndrome. International Doctors in Alcoholics Anonymous-Alcohol Abuse. http://library.ecommunity.com/library/healthguide/selfhelp/_SearchResults.asp?le

80. Formudes.de - Das Auf Dem Open Directory Basierendes Translate this page See also Health Conditions and Diseases Rare Disorders (114). Costello Kids - Official site of the International costello syndrome Support Group. http://www.formudes.de/index.php/Health/Conditions_and_Diseases/Genetic_Disorder

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