81. Indian Journal Of Dermatology, Venereology And Leprology : Cornelia De Lange Syn Indian Journal of Dermatology, Venereology and Leprology cornelia de lange syndrome.(Case Report) @ HighBeam Research. Read Indian http://static.highbeam.com/i/indianjournalofdermatologyvenereologyandleprology/m

eLibrary Web Tour Become a Member ... Customer Support Question / Keyword(s): Advanced Search Current Article: Cornelia de Lange syndrome.(Case Report) Start I Indian Journal of Dermatology, Venereology and Leprology May 01, 2003 ... Cornelia de Lange syndrome.(Case Report) Cornelia de Lange syndrome.(Case Report) Indian Journal of Dermatology, Venereology and Leprology; May 01, 2003; Muhammed, K. Safia, B. Muhammed, K. Safia, B. Indian Journal of Dermatology, Venereology and Leprology May 01, 2003 de lange, lange syndrome, cornelia de, generalized hypertrichosis, present, cm respectively, upper lip, mental retardation, kg, reported, syndrome, figure, cutaneous manifestations, cdls, patients Abstract Two cases of Cornelia de Lange syndrome with similar phenotypic features are reported. Key Words: Cornelia de Lange syndrome, Dwarfism Introduction Cornelia de Lange syndrome (CDLS), also known as Brachman de Lange syndrome or Amsterdam dwarf, is characterized by a typical facies along

82. Governor Frank Murkowski State of Alaska Governor Proclamations Proclamations Archive cornelia de lange syndrome Awareness Day The good health and general wellbeing of the http://gov.state.ak.us/archive.php?id=80&type=6

83. The Cornelia De Lange Syndrome Foundation - Patient UK The cornelia de lange syndrome Foundation Patient UK. A directory patient information. The cornelia de lange syndrome Foundation. http://www.patient.co.uk/showdoc.asp?doc=27000026

84. Newswise Gene Discovered for cornelia de lange syndrome. Libraries Medical News, Keywords GENETICS cornelia de lange syndrome ORPHAN DISEASE. Contact Information. http://www.newswise.com/articles/view/504938/

Username: Password: forgotten login how to register ABOUT NEWSWISE Overview of Services ... How to Register Source: Children's Hospital of Philadelphia Released: Wed 12-May-2004, 06:10 ET Embargo expired: Sun 16-May-2004, 13:00 ET Printer-friendly Version Gene Discovered for Cornelia de Lange Syndrome Libraries Medical News Keywords GENETICS CORNELIA DE LANGE SYNDROME ORPHAN DISEASE Contact Information Available for logged-in reporters only Description An international team of researchers has discovered the gene for Cornelia de Lange syndrome, a disabling, multisystem genetic disease that affects an estimated one in 10,000 children. Geneticists from The Children’s Hospital of Philadelphia and Drexel University College of Medicine in Philadelphia led the study, which received advance online publication on May 17 on the web site of Nature Genetics . In pinpointing the gene, they used an innovative research approach that may lend itself to investigations of other genetic conditions, particularly “orphan diseases:” rare, poorly understood disorders. The lead researchers, Ian D. Krantz, M.D., of Children’s Hospital, and Laird G. Jackson, M.D., of Drexel University College of Medicine, together maintain the world’s largest database of patients with Cornelia de Lange syndrome (CdLS), drawing on clinical records and genetic samples first gathered 30 years ago.

85. Cornelia De Lange Syndrome (CdLS) Foundation National Conference Congress, Title cornelia de lange syndrome (CdLS) Foundation National Conference. Contact cornelia de lange syndrome (CdLS) Foundation. Phone 800223-8355. http://www.docguide.com/crc.nsf/congresses/9458E088B8A62CA085256E210051359A

City Guide Weather Flying Getting Around Dining ... E-Mail this resource to a colleague Congress Title: Cornelia de Lange Syndrome (CdLS) Foundation National Conference Date: June 24, 2004 - June 27, 2004 City: Chicago State/Province: IL Country: United States Contact: Cornelia de Lange Syndrome (CdLS) Foundation Phone: Fax: E-Mail: info@cdlsusa.org City Guide: Chicago Weather Current conditions Four day forecast Climate data Flying Chicago Airports Farebeater online booking Travelocity online booking Getting Around Chicago Transit Authority Taxi Rental car guide Dining Chicago dining Chicagoland Dining Guide New and Notable Restaurants Restaurant scene Shopping Chicago shopping 123 Chicago - shopping Night Life Chicago nightlife Music and clubs Night Clubs Events Special events Events calendar Center Stage Chicago Chicago calendar of events Points of Interest Landmarks Exploring Chicago attractions Lincoln Park Zoo Chicago Botanic Garden ... Chicago Cubs Recreation Sports and recreation Nature in Chicago Other Information How to use a Chicago taxi Travel tips Global Phone Nowfone Currency Converter Universal Currency Converter ATM Locator Visa ATM locator Mastercard/Cirrus ATM locator Postcards Send a postcard from Chicago

86. University Of California Newswire 6922 tmvasich@uci.edu. Researchers discover gene for cornelia de lange syndrome, a disabling childhood disease. Research May Lead to http://www.ucnewswire.org/news_viewer.cfm?story_PK=3877&CFID=215175&CFTOKEN=1952

87. Biochemist E-volution: Biochemistry News UK researchers discover cornelia de lange syndrome gene A team of researchers from Newcastle University have completed a 15year search for the gene that http://www.biochemist.org/news/page.htm?item=11610

88. Deutscher Bildungsserver: Cornelia De Lange Syndrome Foundation, Inc. CDLS-USA F Translate this page selbst in die Datenbank eintragen. Home. Institution Nr.6587 cornelia de lange syndrome Foundation, Inc. (CDLS-USA Foundation). Die http://www.bildungsserver.de/instset.html?Id=6587

89. Cornelia De Lange Syndrome Gene Discovered, May 16, 2004 Press Release - Nationa NICHD Funded Researchers Discover Gene for cornelia de lange syndrome Discovery May Lead to Prenatal Test For Debilitating Disorder. http://www.nih.gov/news/pr/may2004/nichd-16.htm

National Institute of Child Health and Human Development (NICHD) EMBARGOED FOR RELEASE Sunday, May 16, 2004 1:00 p.m. EDT Subscribe CONTACT: Robert Bock or Marianne Glass Duffy NICHD Funded Researchers Discover Gene for Cornelia De Lange Syndrome Discovery May Lead to Prenatal Test For Debilitating Disorder A team of researchers has discovered a gene for Cornelia de Lange Syndrome, a disorder consisting of mental retardation, heart defects and a number of physical abnormalities. The researchers were funded by the National Institute of Child Health and Human Development, one of the National Institutes of Health. The researchers expect the discovery to speed the development of a prenatal genetic test for the syndrome. A similar test will also be developed to diagnose Cornelia de Lange Syndrome in young children suspected of having the disorder. The study was published on May 16 in the online edition of Nature Genetics "The discovery of the gene for Cornelia de Lange Syndrome also offers the chance to learn more about the disorder, and perhaps to develop new treatments for it," said Duane Alexander, M.D., Director of the NICHD.

90. Blackwell Synergy - Cookie Absent cornelia de lange syndrome, hyperthermia and a difficult airway. TJ Papadimos and AP Marco. Anesthetic management of a patient with cornelia de lange syndrome. http://www.blackwell-synergy.com/links/doi/10.1046/j.1365-2044.2003.03362_17.x

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91. ORPHANET - Maladies Rares - Médicaments Orphelins Translate this page Version pour Impression, MALADIE cornelia de lange, syndrome de, Synonyme(s) Brachmann-de lange, syndrome de, CIM Q87.1, Ce syndrome http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=199

92. ORPHANET® Cornelia De Lange, Syndrome De Translate this page ORPHANET. Accès à la base de données Orphanet. cornelia de lange, syndrome de. Accès direct aux détails Résumé Ce syndrome malformatif http://www.orpha.net/static/FR/corneliadelange.html

93. Cornelia De Lange's Syndrome cornelia de lange s syndrome,. Print this article, (cornelia de lange, 18711950, Dutch paediatrician), (also known as Brachman de lange syndrome). http://www.amershamhealth.com/medcyclopaedia/medical/Volume VII/CORNELIA DE LANG

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 Cornelia de lange's syndrome, (Cornelia de Lange, 18711950, Dutch paediatrician), (also known as Brachman de Lange syndrome). The clinical features include low birth weight, facial features which include heavy eyebrows, curly eyelashes, an upturned nose and low hairline, and mental and motor retardation. Radiologically there is microcephaly and limb anomalies, including phocomelia, hemimelia and both oligo- and syndactyly, dislocation of the radial head and retarded bone age. Congenital heart disease is a relatively common feature. The diagnosis of an abnormal fetus is often made prenatally. HC The Encyclopaedia of Medical Imaging Volume VII Contacts GE Healthcare Making Waves

94. De Lange, Syndrome : Sites Et Documents Francophones lange, syndrome de ; cornelia de lange, syndrome de . http://www.chu-rouen.fr/ssf/pathol/delangesyndrome.html

De Lange, syndrome Menu général CISMeF Définition [MeSH Scope Note ; traduction CISMeF] : Syndrome caractérisé par un retard de croissance, un retar mental sévère, une petite stature, un cri grave en grognement, une brachycéphalie, des oreilles basses, un cou plissé, une bouche en carpe, un pont nasal enfoncé, des sourcils touffus se réunissant au milieu, un hirsutisme, et des malformations des mains. La maladie peut se produire sporadiquement ou être associée à un modèle de transmission dominant autosomal ou à la duplication du bras long du chromosome 3. (d'après Menkes, Textbook of Child Neurology, 5th ed, p231) Synonyme(s) CISMeF Brachmann-de Lange, syndrome de ; Cornelia de Lange, syndrome de . Synonyme(s) MeSH Cornelia De Lange, syndrome ; syndrome de lange Voir aussi retard mental Arborescence(s) De Lange, syndrome De Lange syndrome 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 : consultation médicale Cornelia de Lange, syndrome de

95. DermIS / Menú Principal / DOIA / Síndrome De Cornelia De Lange / Información syndrome, de lange syndrome, de langes http://dermis.multimedica.de/doia/diagnose.asp?zugr=d&lang=s&diagnr=9065&topic=i

96. Cornelia De Langen Oireyhtymä cornelia de langeoireyhtymä. Brachmann-langen syndrooma CdL. Oireiston kuvasivat ensimmäisinä cornelia de lange (1933) sekä Brachmann (1916). http://www.saunalahti.fi/kup/syndroma/cornelia.htm

Kehitysvammahuollon tietopankki Kehitysvammaisuus, kuulovamma, likinäköisyys, raajaepämuodostumat, poikkeavat kasvonpiirteet Cornelia de Lange-oireyhtymä Brachmann-Langen syndrooma CdL Keskeisimmät oireyhtymän piirteet ovat erityinen ulkonäkö, kehitysvammaisuus sekä hyvin usein kuulovamma. Oireiston kuvasivat ensimmäisinä Cornelia de Lange (1933) sekä Brachmann (1916). Oireisto on yhtä yleinen tytöillä ja pojilla. Esiintymistiheys on luokkaa 1/10.000 - 50.000 elävinä syntyneistä lapsista. Vammautumisen syynä on useimmiten satunnainen geeni-mutaatio. Virheen on arvioitu sijaitsevan kromosomissa 3 (geenikarttamerkintä 3q26.3). Vammautumisen uusiutumisriski samassa perheessä on arvioitu 2-5 %:ksi. Ulkonäölle on tunnusomaista, että kulmakarvat ovat yhteen kasvaneet, silmäluomet pitkät, hiusraja takana alhaalla, nenän ja ylähuulen väli pitkä, ylähuuli ohut ja suu alaspäin kaartuva. Kädet ovat pienet. Pikkusormet voivat olla käyrät ja peukalo saattaa sijaita normaalia taaempana. Joka neljännellä on vaikeita yläraajaepämuodostumia, raajat voivat olla lyhyet ja sormia voi puuttua. Myös alaraajat voivat olla poikkeavat. Ihokarvoitus saattaa olla kauttaaltaan lisääntynyt. Syntymäpaino ja pituus ovat alle keskiarvojen. Syöminen on alusta alkaen hankalaa (71 %:lla). Paino nousee hitaasti. Lisäksi ruuan takaisinvirtaus mahasta ruokatorveen (gastroesofagiaalinen refluksi) on lisääntynyt. Oireena voi olla lapsen levottomuus syöttöjen jälkeen. Joskus hänelle joudutaan antamaan ravintoa nenä-mahaletkun tai maha-avanteen (gastrostooma) avulla. Myös muunlaisia suoliston toiminta- tai rakennehäiriöitä voi esiintyä. Erilaisia sydämen rakennevikoja on noin 20%:lla . Kuulovammaa esiintyy 60-100 %:lla. Yli puolet vammautuneista on likinäköisiä, usein vahvasti. Virtsan takaisinvirtausta rakosta munuaisiin on noin 10 %:lla ja iho-ongelmia noin 15 %:lla. Psyykkiseltä tasoltaan vammautuneet jaetaan kahteen ryhmään. Näitä ovat klassiset de Lange-vammaiset, joista kaikki ovat psyykkisesti kehitysvammaisia (älykkyysosamäärä keskimäärin 53) sekä lievemmin vammautuneet, joiden henkinen suorituskyky lähenee normaalia.

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