21. Langer-Giedion Syndrome Self Help Clearinghouse. langergiedion syndrome. langer-giedion syndrome Association. International network. WRITE langer-giedion syndrome Assn. 89 Intham Ave. http://www.bchealthguide.org/kbase/shc/shc29lan.htm

document.write(''); var hwPrint=1; var hwDocHWID="shc29lan"; var hwDocTitle="Langer-Giedion Syndrome"; var hwRank="1"; var hwSectionHWID="shc29lan"; var hwSectionTitle=""; var hwSource="cn6.0"; var hwProdCfgSerNo="wsh_html_031_s"; var hwDocType="SHC"; Self Help Clearinghouse Langer-Giedion Syndrome Langer-Giedion Syndrome Association International network. Founded 1997. Provides mutual support for families affected by Langer-Giedion syndrome (aka trichorhinophalangeal syndrome Type II) and TRPS Type I. Works to promote research. Matches families together for support. Newsletter, phone support, advocacy. Dues $20. WRITE: Langer-Giedion Syndrome Assn. 89 Intham Ave. Toronto, Ontario Canada M4K 2W8 CALL: 416-465-3029 Louise Kinross E-MAIL: lkinross@rogers.com WEBSITE: http://www.lgsa.net VERIFIED: 2/24/2003 The above information is based upon information available through the "verified" date at the end of each listing. Since American Self-Help Group Clearinghouse's resources are limited; it is not possible to keep every entry in the American Self-Help Group Clearinghouse database completely current and accurate. Please check with the organizations listed for the most current information. For additional information and assistance about self-help groups, please contact the American Self-Help Group Clearinghouse in Cedar Knolls, New Jersey, by email at: info@selfhelpgroups.org

22. Trichorhinophalangeal Syndrome Type II General Discussion. Trichorhinophalangeal Syndrome Type II (TRPS2), also known as langergiedion syndrome, is an extremely rare inherited multisystem disorder. http://www.bchealthguide.org/kbase/nord/nord1074.htm

document.write(''); var hwPrint=1; var hwDocHWID="nord1074"; var hwDocTitle="Trichorhinophalangeal Syndrome Type II"; var hwRank="1"; var hwSectionHWID="nord1074"; var hwSectionTitle=""; var hwSource="cn6.0"; var hwProdCfgSerNo="wsh_html_031_s"; var hwDocType="NORD"; National Organization for Rare Disorders, Inc. Trichorhinophalangeal Syndrome Type II Important It is possible that the main title of the report is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Synonyms Langer Giedion Syndrome Disorder Subdivisions None Related Disorders List Information on the following diseases can be found in the Related Disorders section of this report: Trichorhinophalangeal Syndrome Type I Trichorhinophalangeal Syndrome Type III Multiple Exostoses Fibrodysplasia Ossificans Progressiva (FOP) Legg-Calve-Perthes Disease General Discussion Symptoms Trichorhinophalangeal Syndrome Type II (TRPS2) is a rare multisystem disorder characterized by fine, thin hair; unusual facial features; short stature; abnormalities of the hands and feet; and/or development of multiple bony growths (exostoses) projecting outward from the surfaces of various bones of the body. Other characteristic abnormalities may include mental retardation, diminished muscle tone (hypotonia), and/or skin abnormalities. The range and severity of symptoms may vary from case to case. Affected infants may exhibit markedly thin, sparse hair at birth (congenital); the hair may also be abnormally brittle and/or may grow slowly. Affected individuals may lose most or all of their scalp hair (alopecia) at a young age, in some cases, by the second decade of life.

23. Langer-Giedion Syndrome langergiedion syndrome. langer-giedion syndrome is named after the two doctors who undertook the main research into the condition in the 1960s. http://www.sciencedaily.com/encyclopedia/langer_giedion_syndrome

Match: sort by: relevance date Free Services Subscribe by email RSS newsfeeds PDA-friendly format loc="/images/" A A A Find Jobs In: Healthcare Engineering Accounting College Contract / Freelance Customer Service Diversity Engineering Executive Healthcare Hospitality Human Resources Information Tech International Manufacturing Nonprofit Retail All Jobs by Job Type All Jobs by Industry Relocating? Visit: Moving Resources Moving Companies Mortgage Information Mortgage Calculator Real Estate Lookup Front Page Today's Digest Week in Review Email Updates ... Outdoor Living Encyclopedia Main Page See live article Langer-Giedion syndrome Langer-Giedion syndrome is named after the two doctors who undertook the main research into the condition in the 1960s. It is a very rare condition and diagnosis is usually made at birth or in early childhood. The syndrome is caused by a small deletion of chromosomal material. In Langer-Giedion syndrome a small piece of the eighth chromosome’s long arm is missing, comprising a number of genes Note: The original source of this article can be found on the main Wikipedia Web site. This article is licensed under the GNU Free Documentation License , which means that you can copy and modify it as long as the entire work (including additions) remains under this license.

24. ScienceDaily -- Browse Topics: Health/Support_Groups/Conditions_and_Diseases/Fac Click Here. Top Health Support Groups Conditions and Diseases Facial Differences langergiedion syndrome (2 links). News about langer-giedion syndrome http://www.sciencedaily.com/directory/Health/Support_Groups/Conditions_and_Disea

Match: sort by: relevance date Free Services Subscribe by email RSS newsfeeds PDA-friendly format loc="/images/" A A A Find Jobs In: Healthcare Engineering Accounting College Contract / Freelance Customer Service Diversity Engineering Executive Healthcare Hospitality Human Resources Information Tech International Manufacturing Nonprofit Retail All Jobs by Job Type All Jobs by Industry Relocating? Visit: Moving Resources Moving Companies Mortgage Information Mortgage Calculator Real Estate Lookup Front Page Today's Digest Week in Review Email Updates ... Facial Differences Langer-Giedion Syndrome (2 links) See Also: Health: Conditions and Diseases: Genetic Disorders News about Langer-Giedion Syndrome New Cardiac Arrhythmia Syndrome Identified (June 1, 2004) full story Silence Of The Genes: Researchers Provide Unique View Of Inherited Disorders And Cancer (June 1, 2004) full story UW-Madison Scientists Find A Key To Cell Division (May 28, 2004) full story Vaccines Against Foodborne Disease On Horizon (May 25, 2004) full story Discovery Of Gene For Cornelia De Lange Syndrome Discovery May Lead To Prenatal Test For Debilitating Disorder (May 20, 2004) full story [ More news about Langer-Giedion Syndrome Books about Langer-Giedion Syndrome List Price: Amazon.com's Price:

25. Langer-Giedion, Syndrome : Sites Et Documents Francophones Translate this page Langer-Giedion, syndrome. Menu général CISMeF. Arborescence(s) du thesaurus MeSH contenant le mot-clé Langer-Giedion, syndrome langer-giedion syndrome http://www.chu-rouen.fr/ssf/pathol/langergiedionsyndrome.html

Langer-Giedion, syndrome Menu général CISMeF Synonyme(s) CISMeF tricho-rhino-phalangien type 2, syndrome. Synonyme(s) MeSH Acrodysplasie V ; Dysplasie tricho-phalangienne type II ; Syndrome Langier-Giedion Arborescence(s) Langer-Giedion, syndrome Langer-Giedion Syndrome appareil locomoteur, 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 : patient Langer-Giedion, syndrome de [Par Dr Aymé S (Orphanet - INSERM SC 11). Site éditeur Orphanet base de données sur les maladies rares et les médicaments orphelins. Direction Générale de la Santé / INSERM ; signes de la maladie, autres sites internet, dysmorphologie, maladies osseuses, conseil génétique, laboratoires de diagnostic, réseaux de professionnels, associations de patients ; pays : France ; langue : français ; format : html ; accès : gratuit ; non parrainé ; daté de : 2002 ; visité le : 18/09/2003]. mots clés : conseil génétique Langer-Giedion, syndrome

26. Support Groups Langer-Giedion Syndrome Support Groups langergiedion syndrome. langer-giedion syndrome Association - An international network of families and professionals http://www.ability.org.uk/support_groups_LG_syndrome.html

"see the ability, not the disability" You to can help support the Ability Project by: Our Aims ... Z Support Groups Langer-Giedion Syndrome Langer-Giedion Syndrome Association - An international network of families and professionals dedicated to providing information and support to people affected by Langer-Giedion Syndrome. To provide support through information on diagnosis, treatments and life issues; to connect families; and to advocate for continued research on Langer-Giedion Syndrome. The Wells Lab Langer Giedion Syndrome Home Page - The goal of this page is to consolidate information and resources on Langer Giedion Syndrome. It will be updated as often as possible. I hope it will be a site that research scientists, clinicians, M.D.'s as well as affected individuals and their families will find useful. Help build the largest human-edited directory on the web. Submit a Site Open Directory Project Become an Editor Webmaster . Site Design by Ability "see the ability, not the disability"

27. Trichorhinophalangeal Syndrome,TRPS,Langer Giedion Syndrome,TRPS1,TRPS2, TRPS3,S Trichorhinophalangeal Syndrome Type I Trichorhinophalangeal Syndrome Type II (langergiedion syndrome) Trichorhinophalangeal Syndrome Type III (Sugio-Kajii http://www.icomm.ca/geneinfo/trps.htm

Trichorhinophalangeal Syndrome,TRPS,Langer Giedion Syndrome,TRPS1,TRPS2, TRPS3,Sugio-Kajii Syndrome,Trichorhinophalangeal Syndrome,TRPS,Langer Giedion Syndrome,TRPS1,TRPS2, TRPS3,Sugio-Kajii Syndrome For Information on Workshops and Seminars for Special Needs Children click here The GAPS INDEX to Information on the Internet about Genetic Disorders and Birth Defects Genetic Information and Patient Services, Inc. (GAPS) HOME DISORDERS GLOSSARY Trichorhinophalangeal Syndrome (as defined by the National Organization for Rare Disorders also known as: TRPS Disorder Subdivisions Trichorhinophalangeal Syndrome Type I Trichorhinophalangeal Syndrome Type II (Langer-Giedion Syndrome) Trichorhinophalangeal Syndrome Type III (Sugio-Kajii Syndrome) Trichorhinophalangeal Syndrome Type I also known as: TRPS I Trichorhinophalangeal Syndrome Type I (TRPS1) is an extremely rare inherited multisystem disorder. TRPS1 is characterized by thin, sparse scalp hair, unusual facial features, abnormalities of the fingers and/or toes, and multiple abnormalities of the "growing ends" (epiphyses) of the bones (skeletal dysplasia), especially in the hands and feet. Characteristic facial features may include a rounded (bulbous) "pear-shaped" nose, an abnormally small jaw (micrognathia), dental anomalies, and/or unusually large (prominent) ears.

28. LANGER-GIEDION SYNDROME: Contact A Family - For Families With Disabled Children: printer friendly, langergiedion syndrome, langer-giedion syndrome Trichorhinophalangeal syndrome Type II. There is no support group for langer-giedion syndrome. http://www.cafamily.org.uk/Direct/l14.html

printer friendly LANGER-GIEDION SYNDROME home more about us in your area conditions information ... how you can help search this site Did you find this page helpful? yes no Langer-Giedion syndrome: Trichorhinophalangeal syndrome Type II Langer-Giedion syndrome (LGS) is named after the two doctors who undertook the main research into the condition in the 1960s. It is a very rare condition and diagnosis is usually made at birth or in early childhood. LGS is caused by a small deletion of chromosomal material. A chromosome is a thread-like structure which is present in the nucleus of all body cells. The chromosomes carry the genes which are the instructions about how to make a new baby from a sperm and an egg. Genes are 'strung' along chromosomes rather like beads are strung along a necklace. In LGS a small piece of the 8th chromosome is missing (or deleted) comprising a number of genes. The loss of these genes is responsible for some of the overall characteristics of LGS. The features associated with this condition include mild to moderate learning difficulties, short stature, unique facial features, small head (microcephaly) and skeletal abnormalities including bony growths projecting from the surfaces of bones. These may include benign bony growths on various bones of the body or cone-shaped extensions on the growing ends (epiphyses) of certain bones, particularly in the hands, and specific craniofacial features. Typically individuals with LGS have fine scalp hair, ears which may be large or prominent, broad eyebrows, deep-set eyes, bulbous nose, long narrow upper lip and missing teeth.

29. Langer-Giedion Syndrome Submit Your Site to the langergiedion syndrome category. Submit Your Site to the langer-giedion syndrome category. Sponsored Results. Health Spotlight. http://www.iseekhealth.com/langer-giedion_syndrome-5610.php

Home About Us Contact Submit Your Site Search : Home Health Support Groups Conditions and Diseases ... Langer-Giedion Syndrome More Langer-Giedion Syndrome Categories: Submit Your Site to the Langer-Giedion Syndrome category Langer-Giedion Syndrome - The University of Houston Langer Giedion Syndrome home page. Information and resources for professionals and families. Langer-Giedion Syndrome Association - International network of families and professionals providing information and support to people affected by Langer-Giedion Syndrome. Submit Your Site to the Langer-Giedion Syndrome category Sponsored Results Health Spotlight List Your Site Here Today! Lab Tests Online @ YourLabTest.com Risk-free lab tests and screens on many common cancers and diseases. Why risk your health? Have your lab test results within 48 hours. Buy Levitra New! Pharmacy-Prescriptions.com Free Levitra consultation and Free shipping. Find out why Levitra is preferred more than Viagra by working faster and lasting longer. Health Partners Online Prescription Drugs Canadian Pharmacy Drugs SightQuest Health Directory Canadian Pharmacy Online ... Sitemap All trademarks and registered marks are the properties of their respective companies.

30. Langer-Giedion Syndrome langergiedion syndrome. Self Help Clearinghouse. langer-giedion syndrome Association. International network. Founded http://www.meritcare.com/hwdb/showTopic.asp?pd_hwid=shc29lan

31. Langer-Giedion Syndrome (LGS) - FISH Analysis langergiedion syndrome (LGS) FISH ANALYSIS. http://www.bcmgeneticlabs.org/tests/cyto/langergiedion.html

LANGER-GIEDION SYNDROME (LGS) FISH ANALYSIS Open Page in New Window Print This Page Return to Search The Kleberg Cytogenetics Laboratory offers a fluorescence in situ hybridization (FISH)-based assay for identifying the microdeletions on 8q24.1 associated with Langer-Giedion syndrome (LGS) and trichorhinophalangeal syndrome (TRPSI). Both syndromes exhibit significant phenotypic variability and most likely represent a contiguous gene deletion syndrome, with the deletion causing LGS including a gene for multiple exostoses ( ). The deletion causing trichorhinophalangeal syndrome includes the gene TRPSI Clinical Features: Langer-Giedion syndrome is characterized by unusual facial features, mental retardation and multiple exostoses. Trichorhinophalangeal syndrome is limited to the facial features and cone-shaped epiphyses seen in LGS. Most TRPSI patients do not have mental retardation or exostoses. Reasons for Referral: FISH can be used to detect deletions in patients with a suspected diagnosis of LGS or TRPS1. Prenatal diagnosis may be performed if an affected family member has been studied in our laboratory and shown to have a deletion detectable by FISH.

32. Trichorhinophalangeal Syndrome (TRPS1) - FISH Analysis The phenotype is variable and may overlap with the phenotype of langergiedion syndrome (LGS), however, trichorhinophalangeal syndrome is limited to the facial http://www.bcmgeneticlabs.org/tests/cyto/trichorhinophalangeal.html

TRICHORHINOPHALANGEAL SYNDROME (TRPS1) FISH ANALYSIS Open Page in New Window Print This Page Return to Search The Kleberg Cytogenetics Laboratory offers a fluorescence in situ hybridization (FISH)-based assay for identifying the microdeletion on chromosome 8q24.1 associated with trichorhinophalangeal syndrome, type I (TRPSI). Clinical Features: Trichorhinophalangeal syndrome (TRPSI) is characterized by craniofacial anomalies, sparse hair, and cone-shaped epiphyses. The phenotype is variable and may overlap with the phenotype of Langer-Giedion syndrome (LGS), however, trichorhinophalangeal syndrome is limited to the facial features and cone-shaped epiphyses seen in LGS. Most TRPSI patients do not have mental retardation or exostoses. Reasons for Referral: FISH can be used to detect deletions in patients with a suspected diagnosis of TRPSI. Prenatal diagnosis may be performed if an affected family member has been studied in our laboratory and shown to have a deletion detectable by FISH. Please call regarding all prenatal samples.

33. Langer-Giedion Syndrome Ailment Name langergiedion syndrome. Join this Community get help by emailing and chatting to others, and sharing information and experiences, http://www.thirdaid.com/conditions/Langer-Giedion_Syndrome.htm

Home Your Registration Details Ailment Name: Langer-Giedion Syndrome Join this Community Registration (Details given below are only for use in the Community and under no circumstances is your information ever provided to other 3rd parties. Required Information How would you like to be known? Birthdate: document.RegistrationForm.birthdate_day.options[birthdate_current_Day].selected=true; January February March April May June July August September October November December document.RegistrationForm.birthdate_month.options[birthdate_current_Month].selected=true; E-mail: (confidential) Please note: If you enter your email address incorrectly you will not be able to access this site. You are a ... Sufferer Carer Doctor For how long? year(s) State/Province/City: Country: Select a Country Afghanistan Albania Algeria American Samoa Andorra Angola Anguilla Antarctica Antigua And Barbuda Argentina Armenia Aruba Australia Austria Azerbaijan Bahamas Bahrain Bangladesh Barbados Belarus Belgium Belize Benin Bermuda Bhutan Bolivia Bosnia and Herzegovina Botswana Bouvet Island Brazil British Indian Ocean Territory Brunei Bulgaria Burkina Faso Burundi Cambodia Cameroon Canada Cape Verde Cayman Islands Central African Republic Chad Chile China Christmas Island Cocos (Keeling) Islands Columbia Comoros Congo Cook Islands Costa Rica Cote DnullIvoire (Ivory Coast) Croatia (Hrvatska) Cuba Cyprus Czech Republic D.P.R. Korea

34. ORPHANET - Rare Diseases - Orphan Drugs Warning, Site map, Contact, Order the Orphanet book, Printing version, DISEASE langergiedion syndrome, Synonym(s) Trichorhinophalangeal syndrome type 2, ICD Q87.8, http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=502

35. :: Ez2Find :: Langer-Giedion Syndrome Guide langergiedion syndrome, Global Metasearch Any Language Guides, langer-giedion syndrome. ez2Find Home Directory Health http://ez2find.com/cgi-bin/directory/meta/search.pl/Health/Support_Groups/Condit

Guide : Langer-Giedion Syndrome Global Metasearch Any Language English Afrikaans Arabic Bahasa Melayu Belarusian Bulgarian Catala Chinese Simplified Chinese Traditional Cymraeg Czech Dansk Deutsch Eesti Espanol Euskara Faroese Francais Frysk Galego Greek Hebrew Hrvatski Indonesia Islenska Italiano Japanese Korean Latvian Lietuviu Lingua Latina Magyar Netherlands Norsk Polska Portugues Romana Russian Shqip Slovensko Slovensky Srpski Suomi Svenska Thai Turkce Ukrainian Vietnamese Mode All Words Any Word Phrase Results Timeout Depth Adult Filter Add to Favorites Other Search Web News Newsgroups Images Guides Langer-Giedion Syndrome ez2Find Home Directory Health Support Groups ... Facial Differences : Langer-Giedion Syndrome Related Categories Health: Conditions and Diseases: Genetic Disorders Web Sites Langer-Giedion Syndrome [Site Info] [Translate] [Open New Window] The University of Houston Langer Giedion Syndrome home page. Information and resources for professionals and families. URL: http://wimp.nsm.uh.edu/lgs.html Langer-Giedion Syndrome Association [Site Info] [Translate] [Open New Window] International network of families and professionals providing information and support to people affected by Langer-Giedion Syndrome. URL: http://www.geocities.com/HotSprings/9308/

36. Langer=-Giedion Syndrome langergiedion syndrome. (Trichorhinophalangeal Syndrome, Type II). This Syndrome can also go under the name of langer-giedion syndrome . http://www.dickibus.co.uk/lgs.htm

Farmer: "I let walkers cross the field for free, But the bull charges!" Donations VERY welcome Click below Good judgment comes from experience. Unfortunately, the experience usually comes from bad judgment. The greatest miracle in the Bible is when Joshua told his son to stand still and he obeyed him. Langer-Giedion Syndrome (Trichorhinophalangeal Syndrome, Type II) This Syndrome can also go under the name of "Langer-Giedion Syndrome". A good patient's (non-jargon) description of it can be found at http://wimp.nsm.uh.edu/LGS-GD.html , and a doctor's (very jargony) description at http://wimp.nsm.uh.edu/lgs.html . The Home Page centring on LGS ican be found at http://wimp.nsm.uh.edu/LGS.htm l (University of Houston). Basically, I think (and I am not a qualified MD - in fact, I never even studied Biology at school... preferred Physics and Chemistry instead.. all 4-7 years of it!) that it occurs when one gene, or a part of it, is missing. In other words, it's a genetically based condition. It comes in two parts..... EXT1, which causes growths (benign cancers?) on bones, and another (named TRPSI by the medical/gene world) which puts a sort of a cone onto some of the growing ends of the bones. What happens when the kid grows up, and stops growing, I have yet to find out! There are other signs which some, but not all, patients have... such as being short, having folds in their skins when they're still kids (young kids, at that), and (sometimes) double-jointedness. To have one, two, or even all of these body traits is not to say "LGS", but rather that someone with LGS is more liable to also fit one or more of these descriptions.

37. Langer-Giedion Syndrome The New Health Directory, Directory, Home Health Support Groups Conditions and Diseases Facial Differences langergiedion syndrome (2) See Also http://www.thenewhealthfind.com/Health/SupportGroups/ConditionsandDiseases/Facia

Directory Home Health Support Groups Conditions and Diseases ... Facial Differences : Langer-Giedion Syndrome (2) See Also: Health: Conditions and Diseases: Genetic Disorders Langer-Giedion Syndrome Association - International network of families and professionals providing information and support to people affected by Langer-Giedion Syndrome. Langer-Giedion Syndrome - The University of Houston Langer Giedion Syndrome home page. Information and resources for professionals and families. Help build the largest human-edited directory on the web. Submit a Site Open Directory Project Become an Editor Quick Links online medications muscles list online pharmacy Prenatal Formulas ... acne scars The New Health Directory Site Map Privacy Contact Advertise ... Health Directory

38. Health Library - groups. langergiedion syndrome. Self Help Clearinghouse. langer-giedion syndrome Association. International network. Founded http://12.42.224.152/Library/HealthGuide/SelfHelp/topic.asp?hwid=shc29lan

39. Langer-Giedion Syndrome Association langergiedion syndrome Association. 89 Ingham Avenue CA W4K 2W8 Toronto, ON W4K 2W8 Conditions langer-giedion syndrome. Hours Answered 9-9 Voicemail yes. http://www.geneticalliance.org/diseaseinfo/displayorganization.html?orgname=Lang

40. Langer-Giedion Syndrome 150230 langergiedion syndrome; LGS. Gorlin RJ, Cohen MM, Hennekam RCM. langer-giedion syndrome Clini?al Synopsis.- OMIM ENTRY 150230. http://ibis-birthdefects.org/start/ukrainian/ulanger.htm

Please set browser to encoding in cyrillic...) òð³õî-ð³íî-ôàëàíãåàëüíèé ñèíäðîì òèï ²² (TRP ²²), Ïðî I.B.I.S. Ïðèºäíàéòåñü äî I.B.I.S. Langer Giedion â 1969 ðîö³. Öå çàõâîðþâàííÿ ç ìíîæèííèìè åêçîñòîçàìè ³ áàãàòüìà îçíàêàìè, õàðàêòåðíèìè äëÿ TRP ² òèïó. Á³ëüø³ñòü âèïàäê³â - ñïîðàäè÷í³, îäíàê îïèñàíà ñ³ìåéíà ïåðåäà÷à: áàòüêî-ñèí, ìàòè-äî÷êà ³ íàÿâí³ñòü ñèíäðîìó ó ìîíîçèãîòíèõ áëèçíþê³â. Äî 1983 ð. Ëàíãåðîì äåòàëüíî áóëè îïèñàí³ äî 30 âèïàäê³â, ïðèáëèçíî 100 âèïàäê³â îïèñàí³ äî òåïåð³øíüîãî ÷àñó. Äåëåö³ÿ 8q24.11 - q24.13.  á³ëüøîñò³ âèïàäê³â äåëåö³þ ìîæíà ïîáà÷èòè öèòîãåíåòè÷íî. TRP II ³ TRP I º ðåçóëüòàòîì ð³çíîãî ðîçì³ðó äåëåö³¿ 8q. Ïðè TRP I äåëåö³ÿ ìåíøà. Äåëåö³ÿ 8q24.12 º â³äïîâ³äàëüíà çà îçíàêè ñï³ëüí³ äëÿ TRP I, TRP II, ãåí EXT I ëîêàë³çîâàíèé íà 8q24.13: ñïðè÷èíÿº âèíèêíåííÿ ìíîæèííèõ åêçîñòîç³â, õàðàêòåðíèõ äëÿ TRP II òèïó. Ìîæëèâà ãåíåòè÷íà ãåòåðîãåíí³ñòü. ÷åðåïíî-ëèöåâ³ àíîìà볿 ñõîæ³ íà TRP I, àëå í³ñ ìåíø ãðóøåïîä³áíèé ³ ä³ëÿíêà ô³ëüòðó á³ëüø âèïóêëà. Âîëîññÿ íà ãîëîâ³ òîíêå. Ëîá âèñòóïàº. ̳êðîöåôàë³ÿ ñåðåäíüîãî ñòóïåíþ á³ëüø ÿê ó 60% ä³òåé. Ñïîñòåð³ãàþòüñÿ íàâèñàþ÷³ øèðîê³ áðîâè ³ ãëèáîêîïîñàäæåí³ î÷³, ðîçõ³äíà êîñîîê³ñòü, àáî ïðèõîâàíà êîñîîê³ñòü â 40% âèïàäê³â. Âóõà âåëèê³ ³ íåïðàâèëüíî ðîçòàøîâàí³. Ô³ëüòð äîâãèé, ÷åðâîíà êàéìà âåðõíüî¿ ãóáè òîíêà. Øèðîêå ïåðåí³ññÿ. ³ïåðïëàç³ÿ íèæíüî¿ ùåëåïè. TRP ² òèï. ²çîëüîâàí³ êîí³÷í³ åï³ô³çè. Êëþ÷è÷íî-êðàí³àëüíà äèñïëàç³ÿ. Ñèíäðîì Åë³ñà Âàí Êðåâåëüäà. Ïñåâäîã³ïîïàðàò³ðåî¿äèçì. Ñèíäðîì Åëåðñà-Äàíëîñà. Ñèíäðîì Ïåðòåñà. Õðÿù³â-âîëîññÿ ã³ïîïëà糿 ñèíäðîì. Ìíîæèíí³ åêçîñòîçè.

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 92    Back | 1  | 2  | 3  | 4  | 5  | Next 20