61. Oudervereniging Cornelia De Lange Syndroom CDLS USA Foundation The cornelia de lange syndrome Foundation is a family supportorganization which exists to ensure the early and accurate diagnosis of CdLS http://www.cdls-nl.org/kontakt/voor_allen/links.html

Oudervereniging Cornelia de Lange Syndroom Oudervereniging CdLS voor nederlandstalige mensen, verbonden door het syndroom Kontakt Kontakt ouders Kontakt vereniging Links naar andere instellingen Kontakt ouders (volledig) Informatie en kontakt mogelijkheden CDLS USA Foundation CDLS World WOI Helpende handen ... Philadelphia Andere informatieve sites Informatie en kontakt mogelijkheden Er zijn vele sites voor mensen met belangstelling voor het syndroom; Cornelia de Lange. Niet alleen sites in andere landen, maar ook sites van instellingen, verenigingen en individuen die iets te zeggen hebben over het syndroom of gerlateerde zaken. Geschreven door: Gerritjan Koekkoek Deze tekst is verschenenen in: Deze website nr 1 van September 2002 CDLS USA Foundation The Cornelia de Lange Syndrome Foundation is a family support organization which exists to ensure the early and accurate diagnosis of CdLS, promote research into the causes and manifestations of the syndrome, and help people with a diagnosis of CdLS, and others with similar characteristics, make informed decisions throughout their lifetime Naar begin van pagina Hoe te bereiken CDLS USA FoundationWebsite: www.cdlsusa.org

62. 12398-cpr 23 May 1998 cornelia de lange syndrome. I'm looking for information about Corneliade Lange syndrome because we have a 10 yeras old child this syndrome. http://www.hum-molgen.de/clinical/23598-ncprr3.htm

HUM-MOLGEN DIAGnostics/Clinical Research 23 May 1998 Cornelia de Lange Syndrome I'm looking for information about Cornelia de Lange syndrome because we have a 10 yeras old child this syndrome. She has a high myopia and I'm not sure about her refraction and about the correction possibility. We are an ophtalmologist group and have never ever seen a case like this. Thanks for your attention. Risla Gomes rigomes@domain.com.br

63. Indian Pediatrics - Letters To The Editor Indian Pediatrics 2000;37 691. cornelia de lange syndrome. Sheela SR. Corneliade Lange syndrome Discordance in twins. Indian Pediatr 1999; 36 12671270. http://www.indianpediatrics.net/june2000/june-691.htm

Home Past Issue About IP About IAP ... Subscription Letters to the Editor Indian Pediatrics 2000;37: 691 Cornelia de Lange Syndrome This is with reference to the article on Cornelia de Lange Syndrome(1) and the subsequent correspondence(2). As Dr. Matthew points out, the occurrence of Cornelia de Lange syndrome in one of two dizygotic twins (in this case a boy and a girl), is indeed what one would expect. However, I would like to address his two subsequent observations. The occurrence of a genetic, autosomal dominant disorder, in two siblings (not monozygotic twins), with both parents being normal, is not necessarily an argument for an environmental cause. Indeed, since the mid 1980s, geneticists have been aware of the phenomenon of gonadal mosaicism in humans. This refers to the presence of more than one germ cell carrying a mutation in the gonad of the individual, when the rest of body (somatic cells, as well as other germ cells) carry normal copies of the gene. This can give rise to exactly the scenario described, with no need to invoke an environmental cause for the syndrome. The converse, monozygotic twins dis-cordant for a disorder, once again may not point to an environmental cause. In the case of a presumed autosomal dominant disorder, such as Cornelia de Lange syndrome(3), this situation has in fact been reported(4,5). A post-zygotic mutation event in one of the twins, very early in gestation, can explain it. This can also be seen in the case of female monozygotic twins with an X-linked disorder, if the X-inactivation pattern is skewed in one of them. In addition, monozygotic twinning- related multiple malformation cases are actually more often discordant than concordant.

64. Case Reports cornelia de lange syndrome Discordance in Twins. cornelia de lange syndrome (Brachmann_deLange syndrome) was originally reported in 1933 by Cornelia de Lange. 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 (

65. Searchalot Directory For Cornelia De Lange Syndrome Sponsored Links. Top Health Conditions and Diseases Neurological DisordersChromosomal cornelia de lange syndrome (4). Related Web Sites. http://www.searchalot.com/Top/Health/ConditionsandDiseases/NeurologicalDisorders

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 Neurological Disorders ... Chromosomal : Cornelia De Lange Syndrome Related Web Sites Baylee's Web Suite: Cornelia de Lange Syndrome - Specially geared towards new parents, family and friends of CdLS children. Information about the disease as well as Baylee's personal progress. The CaF Directory - A description of Cornelia de Lange syndrome, its inheritance patterns and pre-natal diagnosis. NORD - Cornelia de Lange Syndrome - Offers the synonyms, a general discussion and further resources. Pediatric Database - A definition of Cornelia de Lange syndrome, the epidemiology, history, clinical features, organ malformations, investigations and management.

66. GoGuides.Org Directory | De Lange Syndrome URL http//www.cafamily.org.uk/Direct/c72.html CdLS Online SupportGroup cornelia de lange syndrome information and support. http://www.goguides.org/index.php/viewCat/14826

Home Nervous System Disorders Neurologic Manifestations Neurobehavioral Manifestations ... URL Submission Status Sponsored Link: Sponsored Link: Advertise Here De Lange Syndrome: Number of Matches: 3 CAF: Cornelia de Lange - Learn about CDLS, a rare disease. Includes the inheritance patterns, and pre-natal diagnosing. Find UK based support groups; From Contact a Family. URL: http://www.cafamily.org.uk/Direct/c72.html CdLS Online Support Group - Cornelia de Lange Syndrome information and support. Includes a chat, a message board, links, and facts. URL: http://www.cdls-support.org/ Pediatric Database: Cornelia de Lange Syndrome - Offers a definition, the epidemiology, the history, clinical features, investigations and management. URL: http://www.icondata.com/health/pedbase/files/CORNELIA.HTM < Previous Pages: Next >> Guide needed for this topic. Apply to edit this category Link To GoGuides Advertising ... GoGuide Profiles © 2003 GoGuides.Org. Registration Pending

67. WebRing: Hub About this Ring. A ring of web sites dedicated to cornelia de lange syndrome. Teresa'sPlace This site is about Teresa who has cornelia de lange syndrome. http://d.webring.com/hub?ring=cdlskids

68. Other Disabilities And Syndromes cornelia de lange syndrome (CdLS). CdLS Foundation Outreach A GlobalCommunity United by cornelia de lange syndrome Dissociation. http://ani.autistics.org/other_specific.html

Specific Disabilities and Syndromes This document is provided as a public information source. The inclusion of any specific link does not necessarily imply that Autism Network International supports the views expressed in the linked web site, and the exclusion of any specific link does not necessarily imply that Autism Network International does not support the views expressed in the unlinked site. Document contents Attention Deficit Disorder (ADD) Cornelia de Lange Syndrome (CdLS) Dissociation Fragile X Syndrome ... Williams Syndrome Attention Deficit Disorder (ADD) Attention Deficit Disorders (ADD) FAQ v1.2 "An Internet FAQ for parents and teachers of ADD diagnosed children." Children and Adults with Attention Deficit Disorder "Children and Adults with Attention Deficit Disorders (CH.A.D.D.) is a nonprofit parent-based organization formed to better the lives of individuals with attention deficit disorders and those who care for them." Cornelia de Lange Syndrome (CdLS) CdLS Foundation Outreach "A Global Community United by Cornelia de Lange Syndrome" Dissociation alt.support.dissociation FAQs

69. Individual Syndrome Web Site Template Page cornelia de lange syndrome. OMIM Citation Direct Link. Pediatric Database Entry. http://georgia.ncl.ac.uk/URODwSMLS/IWS/Cs/CdL.html

Cornelia de Lange Syndrome OMIM Citation Direct Link Pediatric Database Entry Cornelia de Lange Syndrome Foundation, Inc. Cornelia de Lange Syndrome Pages at Family Village, University of Wisconsin We wish these organisations every success as they continue to educate and support those touched by this syndrome. Return to C's Return to Index Link to Webmaster

70. MEDLINEplus: Birth Defects Facing the Challenges A Guide to cornelia de lange syndrome (Corneliade Lange Syndrome Foundation) Also available in Spanish; http://www.nlm.nih.gov/medlineplus/birthdefects.html

Skip navigation Other health topics: A B C D ... List of All Topics Birth Defects Contents of this page: News From the NIH General/Overviews Anatomy/Physiology ... Statistics Search MEDLINE for recent research articles on Birth Defects You may also be interested in these MEDLINEplus related pages: Cleft Lip and Palate Congenital Heart Disease Down Syndrome Facial Injuries and Disorders ... Genetics/Birth Defects Latest News Birth Defects Linked to Mega-Progesterone (03/21/2003, United Press International) Popular Supplement Causes Mutations (03/18/2003, United Press International) From the National Institutes of Health Jablonski's Multiple Congenital Anomaly/Mental Retardation Syndromes Database (National Library of Medicine) General/Overviews Birth Defects (March of Dimes Birth Defects Foundation) Also available in: Spanish Birth Defects (Nemours Foundation) Birth Defects (American College of Obstetricians and Gynecologists) Descriptions of Leading Categories of Birth Defects (March of Dimes Birth Defects Foundation) Anatomy/Physiology Genes and Birth Defects: Common Forms of Inheritance (March of Dimes Birth Defects Foundation) Late-Appearing Defects (March of Dimes Birth Defects Foundation) Multifactorial Inheritance (March of Dimes Birth Defects Foundation) Clinical Trials ClinicalTrials.gov: Abnormalities

71. Index cornelia de lange syndrome A CASE REPORT. Aynur OÐUZ Key Wordscornelia de lange syndrome, Children. INTRODUCTION. Cornelia de http://www.med.gazi.edu.tr/journal/1997_4_174_176.html

Table of contents CORNELIA DE LANGE SYNDROME : A CASE REPORT Aynur OÐUZ, M.D., Aysun BÝDECÝ, M.D., Sedef TUNAOÐLU, M.D., Rana OLGUNTÜRK, M.D., Alev HASANOÐLU, M.D., Mustafa YILDIRIM, M.D. Gazi University, Faculty of Medicine, Department of Pediatrics, Ankara, Turkey Gazi Medical Journal 1997; 8 : 174-176 SUMMARY An eleven - month - old male patient with dismorphic face, thick and curly hair, abnormally low placed ears, cleft palate, short back, low hair line, as well as hypospadias, cryptoorchidism, bilateral inguinal hernia, and phocomelia of the upper extremites was considered to have Cornelia de Lange syndrome. He had the combination of patent ductus arteriosus (PDA), tricuspid valve insufficiency, and bicusbid aortic valve as the cardiac anomalies, which haven't been reported to our knowledge in the literature before. Key Words : Cornelia de Lange Syndrome, Children.

72. AusPharmList 012003/152 cornelia de lange syndrome (not Cornelius). Posted 18/01/2003 by Tony Wiss. Afterdoing a bit of searching I found that it is cornelia de lange syndrome. http://www.auspharmlist.net/2003/012003/152.html

Cornelia de Lange syndrome (not Cornelius) Posted 18/01/2003 by Tony Wiss Monika Ogilvie wrote: "Has anyone heard of Cornelius de Lange Syndrome? I'd like to know more about this condition but cannot find anything in the literature. Any ideas?" After doing a bit of searching I found that it is Cornelia de Lange Syndrome The syndrome is sometimes abbreviated to CdLS and some references are also to de Lange Syndrome and others to Brachmann-de Lange syndrome Background: Cornelia de Lange syndrome (CDLS) is a multiple congenital anomaly syndrome characterized by a distinctive facial appearance, prenatal and postnatal growth deficiency, feeding difficulties, psychomotor delay, behavioral problems, and associated malformations mainly involving the upper extremities. Cornelia de Lange first described it as a distinct syndrome in 1933, although Brachmann had described a child with similar features in 1916. Diagnosing CDLS in classic cases is usually straightforward, but diagnosing CDLS in milder cases may be challenging, even for an experienced clinician The above is from emedicine and is one of many found using the SumSearch engine on www.auspharmacist.net

73. AusPharmList 012003/164 I suspect you may mean cornelia de lange syndrome. brachmannde lange syndrome corneliade lange syndrome de lange's syndrome typus degenerativus amstelodamen. http://www.auspharmlist.net/2003/012003/164.html

Cornelius de Lange syndrome Posted 20/01/2003 by Elizabeth Anderson Monika Ogilvie wrote: "Has anyone heard of Cornelius de Lange Syndrome? I'd like to know more about this condition but cannot find anything in the literature. Any ideas?" Hello Monika, I suspect you may mean Cornelia de Lange Syndrome. This is a Medline subject heading term. MeSH HEADING: DE LANGE SYNDROME SCOPE: A syndrome characterized by growth retardation, severe MENTAL RETARDATION, short stature, a low-pitched growling cry, brachycephaly, low-set ears, webbed neck, carp mouth, depressed nasal bridge, bushy eyebrows meeting at the midline, hirsutism, and malformations of the hands. The condition may occur sporadically or be associated with an autosomal dominant pattern of inheritance or duplication of the long arm of chromosome 3. (Menkes, Textbook of Child Neurology, 5th ed, p231) Other terms for De Lange syndrome are: brachmann-de lange syndrome cornelia de lange syndrome de lange's syndrome typus degenerativus amstelodamen or in Embase other terms for De Lange syndrome are: Amsterdam Degenerative Type Amsterdam Dwarf Brachmann de Lange Syndrome Brackmann de Lange Syndrome Congenital Muscular Hypertrophic Cerebral Syndrome Cornelia de Lange Syndrome De Lange's Syndrome Typus Degenerativus Amstelodamensis If you search Medline or Embase with this term you may find the details you are looking for. Alternatively, an internet search engine such as Google.

74. Sindrome De Cornelia De Lange - Zona Pediatrica Translate this page sustancias que pueden dar malformaciones. LINKs ASOCIADOS PARA CONOCERMÁS DE ESTE SÍNDROME cornelia de lange syndrome Foundation. http://www.zonapediatrica.com/patologias/lange.htm

Zona Compartida Escritorio Zona Superdotados Zona Bioetica Zona Solidaria ... Downloads Zona Padres Home Zona Padres Lo nuevo para padres Los Temas de salud Consulte al Pediatra ... Store Zona Profesional Home Profesionales Directorio Medico Noticias Medline ... Enlaces NO SINDROME DE CORNELIA DE LANG E L a Dra. Cornelia de Lange realizó una publicación donde vinculaba ciertos signos y síntomas que abarcaban variables grados de retardo mental, anormalidades de miembros superiores , retardo del crecimiento y rasgos faciales determinados. Este síndrome tiene una frecuencia cercana al 1/10000 personas, no habiendo predominio en cuanto a sexo. Por el lado de la recurrencia entre hermanos es del 2 al 5% (hay autores que la consideran menor). re flujo gastroesofágico sordera miopia, estrabismo

75. EnableNet - Enablenet.browse.browse Website cornelia de lange syndrome USA Foundation This United States based foundationis a family support organization which aims to ensure the early and http://www.enable.net.au/index.cfm?fuseaction=enablenet.browse.browse&catid=2372

76. Liens En Déficience Intellectuelle Translate this page Syndrome Cornelia De Lange (cornelia de lange syndrome). Cornelia De Langesyndrome foundation. Baylee's web suite. Références intéressantes. http://www.er.uqam.ca/nobel/d341460/liens.htm

(li nks to websites on genetic syndromes and other medical conditions that may cause mental retardation Argininémie (Argininamia) Galactosémie Galactosemia Hydrocéphalie et Spina Bifida hydrocephalus and Spina Bifida Lissencephalie (lissencephaly) Neurofibromatose neurofibromatosis Paralysie Cérébrale Cerebral palsy Phénylcétonurie phenylketonuria Sclérose tubéreuse de Bourneville tuberous sclerosis Trisomies 13, 18 et 21 trisomy 13, 18, 21 Syndrome du bébé secoué (Shaken baby syndrome) Syndrome Alcolo-foetal Foetal alcohol syndrome Syndrome d'Angelman Angelman syndrome ... Syndrome "Cat-Eye" (Cat-eye syndrome) Syndrome Cornelia De Lange (Cornelia de Lange syndrome) Syndrome du Cri du Chat (Cri du chat syndrome) Syndrome de Klinefelter (Klinefelter syndrome) Syndrome Landau-Kleffner (Landau-Kleffner syndrome) Syndrome Langer-Giedion (Langer-Giedion syndrome) Syndrome de Prader-Willi (Prader-Willi Syndrome) Syndrome Smith-Magenis (Smith-Magenis syndrome) ... Syndrome Sturge-Weber (Sturge-Weber syndrome) Syndrome de Turner (Turner syndrome) Syndrome Triplo-X (Triplo-X syndrome) Syndrome de Rett (Rett syndrome) Syndrome de Williams (Williams syndrome) ... Génétique (Genetics) Autisme (autism) Argininémie (argininamia) Yahoo groups: argininémia Description de l'Argininémie (argininamia description) National urea cycle disorders foundation ... Références intéressantes Galactosémie (galactosemia) Galactosemia Ressources and information Parents of galactosemics, Inc.

77. WebGuest - Open Directory : Health : Conditions And Diseases : Neurological Diso Top Health Conditions and Diseases Neurological Disorders Chromosomalcornelia de lange syndrome (4). See also Health Conditions http://directory.webguest.com/index.cgi/Health/Conditions_and_Diseases/Neurologi

Browse thru 1000's of books about health, mind and body: About Us Privacy Statement Acceptable Use Policy Legal Notices ... Contact Us the entire directory only in Chromosomal/Cornelia_De_Lange_Syndrome Top Health Conditions and Diseases Neurological Disorders ... Chromosomal : Cornelia De Lange Syndrome See also: Health: Conditions and Diseases: Genetic Disorders Health: Conditions and Diseases: Rare Disorders Sites: Baylee's Web Suite: Cornelia de Lange Syndrome - Specially geared towards new parents, family and friends of CdLS children. Information about the disease as well as Baylee's personal progress. The CaF Directory - A description of Cornelia de Lange syndrome, its inheritance patterns and pre-natal diagnosis. NORD - Cornelia de Lange Syndrome - Offers the synonyms, a general discussion and further resources. Pediatric Database - A definition of Cornelia de Lange syndrome, the epidemiology, history, clinical features, organ malformations, investigations and management. Last update: 22:46 PT, Thursday, March 28, 2002 Help build the largest human-edited directory on the web.

78. Directory :: Look.com cornelia de lange syndrome (4) Sites. Baylee's Web Suite cornelia de lange syndromeSpecially geared towards new parents, family and friends of CdLS children. http://www.look.com/searchroute/directorysearch.asp?p=594624

79. Health Library - Cornelia De Lange cornelia de lange syndrome Foundation, Inc. International. Founded 1981Providessupport and education to families affected by cornelia de lange syndrome. http://bhagh.nhshealth.org/Library/HealthGuide/SelfHelp/topic.asp?hwid=shc29cor

80. Diagnosis - Hirsutism Table cornelia de lange syndrome, Typus degenerativus amstelodamensis (De Langesyndrome, Brachmande Lange syndrome), 122470. HAIR-AN (HyperAndrogenism http://www.keratin.com/ab/ab008.shtml

hirsutism table Home Forums Privacy Advertising ... Home On this page... Introduction List of disorders involving excess hair growth (hirsutism) Introduction The table below records disorders known to involve excess hair growth due to hormonal influence (hirsutism). The clinical distinction between hirsutism and hypertrichosis is that hirsutism involves hair growth in a secondary sexual characteristic pattern. For example, women with pigmented terminal hair growth in the beard, mustache, chest, and escutcheon areas have hirsutism and not hypertrichosis. Hirsutism typically involves endocrine dysfunction (abnormal hormone levels). This is not necessarily a complete list of disorders involving hirsutism. Links to relevant web pages on the Online Mendelian Inheritance in Man (OMIM) web database are also given where possible. Where a disorder is known by more than one name, alternative names are given in the second column and the record duplicated in the first column under each respective name. Brackets around alternative disorder names indicate an indirect association, for example a subcategory of the disorder. These records are not duplicated in the first column.

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