61. A NATIONAL DAY OF ACTION The cornelia de lange syndrome Association (Australasia) Inc is a nonprofitorganisation which is run by volunteers, usually parents, who have a family http://www.cdlsaus.org/

Home About CdLS Association Events ... Newsletter Sponsored by: Australian Maritime Systems What's New! All The Latest News!!!! A NATIONAL DAY OF ACTION In response to the overwhelming support of the nation after the airing of “The Hidden Army” on four corners Caring families invite all caring Australians to WALK A MILE IN MY SHOES TM Tuesday, 13th September 2005, at 10am On the lawns of Parliament House, Canberra The unmet need in the Disability Support Sector and the Mental Health Care Sector is a National Disgrace. Family Carers save our governments at least $30 billion dollars a year. Families need help to sustain their ongoing support role. Families need futures for themselves and those for whom they care. For details or to register to join us in our day of action, contact: QLD - Liaison FELICITY MADDISON 07) 33599131 NSW - Liaison NELL BROWN 02) 94772288 VIC - Liaison JEAN TOPS 03) 51271904 SA - Liaison email@dignity4disabled.com.au WA - Liaison CAROLE FRANKLIN 08) 93986329 Or email us at - walkamile@optusnet.com.au

62. J Med Genet -- Sign In Page cornelia de lange syndrome (CdLS, also called Brachmann de Lange syndrome; Dominant paternal transmission of cornelia de lange syndrome a new case and http://jmg.bmjjournals.com/cgi/content/full/41/12/e128

HOME HELP FEEDBACK SUBSCRIPTIONS ... SEARCH Author Keyword(s) Vol Page [Advanced] Access to this article requires a subscription or payment. Full Text NIPBL mutations and genetic heterogeneity in Cornelia de Lange syndrome Borck et al. J Med Genet. To view this item, select one of the options below: Login via Athens Login for existing subscribers User Name Sign in without cookies. Can't get past this page? Help with Cookies. Need to Activate? Password Forgotten your user name or password? Subscribe Buy the article Pay per Article - You may access this article (from the computer you are currently using) for 2 days for US$12.00 SitePass - You may access all content in Journal of Medical Genetics Online (from the computer you are currently using) for 30 days for US$30.00. Regain access to an already purchased article if the access period has not yet expired. This Article Extract Full Text (PDF) Submit a response ... Alert me if a correction is posted Services Email this link to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Download to citation manager PubMed PubMed Citation Articles by Borck, G

63. NIPBL Mutations And Genetic Heterogeneity In Cornelia De Lange Syndrome -- Borck cornelia de lange syndrome (CdLS, also called Brachmann de Lange syndrome; OMIM122470) is characterised by pre and postnatal growth retardation, http://jmg.bmjjournals.com/cgi/content/extract/41/12/e128

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS Author Keyword(s) Vol Page [Advanced] This Article Full Text Full Text (PDF) Submit a response ... Citation Map Services Email this link to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Download to citation manager PubMed PubMed Citation Articles by Borck, G Articles by Cormier-Daire, V Related Collections Genetics Journal of Medical Genetics ONLINE MUTATION REPORT NIPBL mutations and genetic heterogeneity in Cornelia de Lange syndrome G Borck R Redon D Sanlaville M Rio M Prieur S Lyonnet M Vekemans N P Carter A Munnich L Colleaux and V Cormier-Daire The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK Correspondence to: Revised version received 21 September 2004 Accepted for publication 23 September 2004 Abbreviations: CdLS, Cornelia de Lange syndrome; DAPI, 4',6'-diamidino-2-phenylindole

64. Indian Journal Of Dermatology, Venereology And Leprology: Cornelia De Lange Synd Access the article, cornelia de lange syndrome. Two cases of Cornelia deLange syndrome with similar phenotypic features are reported. http://www.findarticles.com/p/articles/mi_hb3310/is_200305/ai_n8004180

@import url(/css/us/style1.css); @import url(/css/us/searchResult1.css); @import url(/css/us/articles.css); @import url(/css/us/artHome1.css); Advanced Search Home Help IN free articles only all articles this publication Automotive Sports 10,000,000 articles - not found on any other search engine. FindArticles Indian Journal of Dermatology, Venereology and Leprology May 2003 10,000,000 articles Not found on any other search engine. Featured Titles for AAACN Viewpoint ABNF Journal, The AIDS Treatment News AMAA Journal ... View all titles in this topic Hot New Articles by Topic Automotive Sports Top Articles Ever by Topic Automotive Sports Save a personal copy of any page on the Web and quickly find it again with Furl.net. It's free. Get started now. Cornelia de Lange syndrome.(Case Report) Indian Journal of Dermatology, Venereology and Leprology May, 2003 by Safia, B. Content provided in partnership with Read the full article with a Free Trial of HighBeam Research Abstract Two cases of Cornelia de Lange syndrome with similar phenotypic features are reported. Key Words: Cornelia de Lange syndrome, Dwarfism

65. Expert - Cornelia De Lange Syndrome Find Expert in cornelia de lange syndrome Directory of Experts, Legal Consultants,Forensic Experts, and Litigation Support Services in Cornelia de Lange http://www.hgexperts.com/listing/Medical-Expert-Witness-Cornelia-de-Lange-Syndro

MEDICAL EXPERTS EXPERT WITNESSES MEDICAL EXP. WITNESSES SPEAKER BUREAUS LEGAL CONSULTANTS Appraisal Banking Case Management Employment ... PROCESS SERVERS Find experts, legal consultants, forensic experts, and litigation support services nationwide. Company Name Any word(s) in Description and Expertise State/Province Country Alabama Alaska Alberta Arizona Arkansas British Columbia California Colorado Connecticut Delaware District of Columbia Florida Georgia Guam Hawaii Idaho Illinois Indiana Iowa Kansas Kentucky Louisiana Maine Manitoba Maryland Massachusetts Michigan Minnesota Mississippi Missouri Montana Nebraska Nevada New Brunswick New Hampshire New Jersey New Mexico New York Newfoundland North Carolina North Dakota Northwest Territory Nova Scotia Ohio Oklahoma Ontario Oregon Pennsylvania Prince Edward Island Puerto Rico Quebec Rhode Island Saskatchewan South Carolina South Dakota Tennessee Texas U.S. Virgin Islands Utah Vermont Virginia Washington West Virginia Wisconsin Wyoming Yukon Territory United States of America Afghanistan Albania Algeria American Samoa Andorra Angola Anguilla Antigua Argentina Armenia Aruba Australia Austria Azerbaijan Bahamas Bahrain Bangladesh Barbados Belarus Belgium Belize Benin Bermuda Bhutan Bolivia Bosnia and Herzegovina Botswana Brazil British Virgin Islands Brunei Brunei Darussalam Bulgaria Burkina Faso Burma Burundi Cambodia Cameroon Canada Canary Islands Cayman Islands Central African Republic Chad Channel Islands Chile China Colombia Comoros Congo Congo (Dem. Rep.)

66. Cornelia De Lange Syndrome cornelia de lange syndrome (CDS). AKA de Lange Syndrome or Brachmannde LangeSyndrome. Definition; Epidemiology; Etiology; Clinical Manifestations http://www.dpo.uab.edu/~birmie/cdl.htm

CORNELIA DE LANGE SYNDROME (CDS) AKA: de Lange Syndrome or Brachmann-de Lange Syndrome Definition Epidemiology Etiology Clinical Manifestations ... Reference Page Definition: a congenital disorder characterized by the symptoms listed below. Epidemiology: Variable estimates include 1 in 10,000-60,000 newborns. Affects males and females equally and shows no geographic dominance. Etiology Most cases are sporadic, but research suggests that some cases involve a genetic component either autosomal recessive or autosomal dominant. The genetic component being possibly a duplication in the 3rd chromosome. Clinical Manifestations hypertonicity, speech delay (associated with hearing loss) with low pitched, growling monotonous sounds, mental retardation (average IQ 53) , feeding difficulties, and psychomotor retardation (decreased acquisition of skills requiring the coordination of mental and muscular activity). Craniofacial features include: long eyelashes with a continuous eyebrow (synophrys), icrobrachycephaly, a small, broad, upturned nose, a thin down turning upper lip, a long philtrum, and micrognathia (small mandible).

67. Cornelia De Lange Syndrome Baylee s Web Suite information on cornelia de lange syndrome, including a CdLSdiscussion forum. cornelia de lange syndrome Foundation http://www.cannylink.com/diseasecorneliadelangesyndrome.htm

Web www.CannyLink.com Cornelia de Lange Syndrome Amanda's Room - dedicated to our daughter who has Cornelia de Lange Syndrome(CdLS). Information and links for families with children with CdLS. Baylee's Web Suite - information on Cornelia de Lange Syndrome, including a CdLS discussion forum. Cornelia de Lange Syndrome Foundation Back to The Cannylink home page You can e-mail us at Webmaster@cannylink

68. Cornelia De Lange Syndrome cornelia de lange syndrome. Brachmannde Lange syndrome. CDLS. Typus degenerativusAmstelodamensis. cornelia de lange syndrome cornelia de lange syndrome http://www.gfmer.ch/genetic_diseases_v2/gendis_detail_list.php?cat3=84

69. Cornelia De Lange Syndrome The cornelia de lange syndrome is a multisystem developmental disorder Strachan T. cornelia de lange syndrome and the link between chromosomal function, http://www.humpath.com/article.php3?id_article=4157

70. Share Home - Cornelia De Lange Syndrome?? cornelia de lange syndrome Blaine314 0301pm Jul 11, 2005 EST Mom of 29.5wkrnow 4.5 months(act) 2 months (adj) Has anyone every heard of this? http://www.shareyourstory.org/webx?230@550.IbbEahCzoti.0@.eea22da

71. ScienceDaily -- Browse Topics: Health/Conditions_and_Diseases/Neurological_Disor The CaF Directory A description of cornelia de lange syndrome, its inheritancepatterns and pre-natal diagnosis. NORD - cornelia de lange syndrome http://www.sciencedaily.com/directory/Health/Conditions_and_Diseases/Neurologica

@import "/styles/navbar.css"; @import "/styles/tabStyles.css"; Set home page Bookmark site Add search Latest News ... Email to friend Text Size A A A Front Page ... Chromosomal : Cornelia De Lange Syndrome Subtopics See Also: Health: Conditions and Diseases: Genetic Disorders Health: Conditions and Diseases: Rare Disorders Search Google: Cornelia De Lange Syndrome News Books Links ... Mayo Clinic Develops New Coma Measurement System (September 8, 2005) full story Nitric Oxide Could Extend Fertility (September 8, 2005) Biochemistry , an American Chemical Society journal. full story Flipped, Expelled, Copied, And Shrunk: Researchers Document Dramatic Genome Alterations During Primate Evolution (September 6, 2005) Genome Research presents a series of studies that provide insight into the evolution and variation of primate genomes. The issue will appear online and in print on September 1, concomitant with the publication of the chimpanzee genome sequence in the journal Nature full story Discovery Will Aid Identification Of Misregulated Genes In Rett Syndrome (September 4, 2005) Molecular Cell that the "Rett Syndrome protein", MeCP2, only binds to genes with a specific sequence of nucleotide bases. This knowledge will aid in the identification of the genes that are regulated by the gene MECP2. This work was supported, in part, by the Rett Syndrome Research Foundation (RSRF).

72. State Of Idaho - Proclamation Cornelia De Lange Syndrome Awareness Day The official website of the Idaho Governor, Dirk Kempthorne. http://gov.idaho.gov/mediacenter/proc/proc03/procmay/Proc_CdLS.htm

Executive Department State of Idaho The Office of the Governor Proclamation State Capitol Boise WHEREAS, every child is valuable to our state; and WHEREAS, Cornelia de Lange Syndrome is a congenital syndrome who's common characteristics include: low birthweight (often under five pounds), slow growth and small stature, and small head size (microcephaly); and WHEREAS, CdLS is a rare and often undiagnosed syndrome; and WHEREAS, between 1:10,000 and 1:30,000 live births result in CdLS every year; and WHEREAS, undiagnosed victims of CdLS often suffer a childhood death; and WHEREAS, early detection can lead to a full and productive life for children born with CdLS; and WHEREAS, early detection hinges on public awareness of CdLS; and NOW, THEREFORE, I, DIRK KEMPTHORNE, Governor of the State of Idaho, do hereby proclaim May 10, 2003, to be CORNELIA de LANGE SYNDROME AWARENESS DAY in Idaho. IN WITNESS WHEREOF, I have hereunto set my hand and caused to be affixed the Great Seal of the State of Idaho at the Capitol in Boise on this twenty-fifth day of April in the year of our Lord two-thousand and three and of the Independence of the United States of America the two hundred twenty-seventh and of the Statehood of Idaho the one hundred thirteenth. DIRK KEMPTHORNE GOVERNOR BEN YSURSA SECRETARY OF STATE printable PDF file Governor's Homepage Contact State of Idaho

73. Cornelia De Lange Syndrome Muhammed K, Safia B - Indian J Dermatol Venereol Lepr Two cases of cornelia de lange syndrome with similar phenotypic features are reported cornelia de lange syndrome (CDLS), also known as Brachman de Lange http://www.ijdvl.com/article.asp?issn=0378-6323;year=2003;volume=69;issue=3;spag

74. INFOLINK DATABASE /All Locations Click on the following to. Connect to the Home Page of cornelia de lange syndromeSupport Group. Mailing, 33 Grenadier Drive, Thornlie, WA, 6108 http://henrietta.liswa.wa.gov.au:81/search/dConsumer Protection/dconsumer protec

NAME SUBJECT LOCATION WORD Community Records Government Records View Entire Collection Record: Prev Next Name Cornelia de Lange Syndrome Support Group Address 135 Princes Street, Putney, NSW, 2112 Click on the following to: Connect to the Home Page of Cornelia de Lange Syndrome Support Group Mailing 33 Grenadier Drive, Thornlie, WA, 6108 Telephone Tel: (08) 9452 7572 Tel: 0413 569 171 (Mobile) Email, etc. Email: ssandilands@primus.com.au Email: cdlsaust@primus.com.au Personnel State Co-ordinator and National Committee Member: Mr Stephen Sandilands, (08) 9452 7572 (Home), 0413 569 171 (Mobile) Purpose Provision of support to families with Cornelia de Lange Syndrome (CDLS) children. Provide information on the Syndrome and educational literature on developmental situations and medical implications. Promote, support and foster research into the genetic cause of this disability. Note Membership: 100 Fees, etc. Fees: $25.00 per annum Parent Cornelia de Lange Syndrome Australasia Association Updated Subject Health Diseases Self Help Groups Cornelia de Lange Syndrome Added name Cornelia de Lange Syndrome Australasia Association Record: Prev Next

75. Analysis Of Cornelia De Lange Syndrome 1 Disease mapped cornelia de lange syndrome 1 Chromosome 3 Genomic positionstartstop 187000001- Cornelia tw AND Lange tw AND syndrome tw http://www.bork.embl-heidelberg.de/g2d/exam_disease.pl?U1034

76. References For Cornelia De Lange Syndrome 1 With The MeSH Term De Lange Syndrome. References for cornelia de lange syndrome 1 with the MeSH termDe Lange Syndrome, G2D Home. PMID and date. Follow the link to see the http://www.bork.embl-heidelberg.de/g2d/exam_mesh_disease.pl?De_Lange_Syndrome:U1

77. Volunteer With Cornelia De Lange Syndrome (CdLS) Foundation, Inc. - Avon, CT cornelia de lange syndrome (CdLS) Foundation, Inc. is located in Avon, Connecticut. http://www.volunteermatch.org/orgs/org10313.html

Skip over navigation VolunteerMatch is currently experiencing network delays More Hurricane Relief How you can help now [ Go Home Search Volunteers ... Virtual Refine Your Search Organization Name ZIP Code Distance 5 miles 10 miles 20 miles 60 miles City County Metro Area State Interest Area Everything Animals Board Development Community Crisis Support Disabled Employment Environment Hunger Hurricane Relief International Politics Religion Seniors Women City State AL AK AS AZ AR CA CO CT DE DC FM FL GA GU HI ID IL IN IA KS KY LA ME MH MD MA MI MN MS MO MT NE NV NH NJ NM NY NC ND MP OH OK OR PW PA PR RI SC SD TN TX UT VT VI VA WA WV WI WY Preferred Partners Everything AARP America's Second Harvest American Humane Assoc American Red Cross ASDVS Camp Fire USA Hands On Network Hostelling International Keep America Beautiful National CASA USA Freedom Corps Everything AmeriCorps Senior Corps Peace Corps Citizen Corps Advanced Search setSearchVis('optional'); FEEDBACK Comments or praise about this volunteer organization? Send VolunteerMatch your feedback. We want to hear from you. Share Your Feedback Organization Detail Cornelia de Lange Syndrome (CdLS) Foundation, Inc.

78. Health Education Database | Child Health And Safety | Children's Hospital & Regi Facing the challenges a family s guide to cornelia de lange syndrome This booklet can be printed from the cornelia de lange syndrome Foundation s http://www.seattlechildrens.org/child_health_safety/health_safety_resources/cc_S

79. Indian Pediatrics - Editorial cornelia de lange syndrome. A sixyear-old female child born out of nonconsanguineous Clinical diagnosis of cornelia de lange syndrome was entertained. http://www.indianpediatrics.net/nov2002/nov-1056-1057.htm

Home Past Issue About IP About IAP ... Subscription Images in Clinical Practice Indian Pediatrics 2002; 39:1056-1057 Cornelia De Lange Syndrome Fig.1 Fig. 1. Hypertrichosis, bushy eyebrows meeting in the midline and typical facies. The condition is characterized by microcephaly, bushy eyebrows meeting in the midline (synophrys), hypertrichosis, marked short stature and variable mental retardation and limb abnormality. Hirsuitism is usually seen in most of the patients. There is no fixed pattern of inheritance described. However, in some of these patients duplication of long arm of chromosome 3 has been described. K.C. Aggarwal, Dinesh Singh, Department of Pediatrics, Safdarjung Hospital, New Delhi 110 029, India Home Past Issue About IP About IAP ... Subscription

80. Case Reports cornelia de lange syndrome (Brachmann_de Lange syndrome) was originally Stevenson RE, Scott CI Jr. Discordance for cornelia de lange syndrome in twins. http://www.indianpediatrics.net/dec-99/99-dec-13.htm

Home Past Issue About IP About IAP ... Subscription Case Reports Indian Pediatrics 1999;36:1267-1270 Cornelia de Lange Syndrome: Discordance in Twins Sheela S.R. From the Department of Pediatrics, Samaritan Hospital, Kizhakkambalam P.O., Alwaye 683 562, Ernakulam District, Kerala, India. Reprint requests: Dr. Sheela S.R., `Snehanjali', Seeveli Nagar, Kaithamukku, Thiruvanthapuram 695 024, Kerala, India. Manuscript Received: March 11, 1999; Initial review completed: April 8, 1999; Revision Accepted: July 13, 1999 It is extremely rare for Cornelia de Lange syndrome to occur in one of a pair of twins; only one such case has been reported so far(1). I am reporting this case because of its rarity. Case Report A 32-year-old mother, underwent Caesa-rean section for twin pregnancy with transverse lie. The first born of twins was a female baby weighing 1500 g with a gestational age of 34 weeks. Apgar score was 6 and 9 at 1 and 5 minutes, respectively. The other twin was a perfectly normal male baby weighing 2.75 kg. The elder sibling is a normal female child who is 5 years old. There is no family history of consanguinity. Physical examination of the first twin revealed a 34 week preterm SGA baby weighing 1500 g, with a length of 38 cm and a head circumference of 27 cm. Baby was hirsute, with excess hair over the forehead and ears and upper back, with a low posterior hair line; she had bushy eyebrows and synophrys, and long curly eyelashes. The face showed anteverted nostrils and a long philtrum; the lips were thin with a small midline beak of the upper lip and a corresponding notch in the lower lip, with a downward curving of the angle of the mouth (

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