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         Langer-giedion Syndrome:     more detail

41. Geneticalliance.org
langergiedion syndrome Also known as Trichorhinophalangeal syndrome, Type IISupport Groups langer-giedion syndrome Association 89 Ingham Avenue
http://www.geneticalliance.org/ws_display.asp?filter=support_groups_by_disease&t

42. Geneticalliance.org
langergiedion syndrome Association Conditions Served langer-giedion syndrome.Late Onset Tay-Sachs Foundation Conditions Served Tay-Sachs, Late Onset
http://www.geneticalliance.org/ws_display.asp?filter=diseases_support_groups&key

43. Langer-Giedion Syndrome Topic - Unified Search Environment
langergiedion syndrome Topic Tree langer-giedion syndrome MSH/MH/D015826 MSH/PM/D015826 MSH/PM/D015826 MSH/EP/D015826 MSH/PM/D015826 MSH/PM/
http://www.use.hcn.com.au/portals/shared/subject.`Langer-Giedion Syndrome`/home.
Langer-Giedion Syndrome Topic Tree Definition:
Autosomal dominant disorder characterized by cone-shaped epiphyses in the hands and multiple cartilaginous exostoses. Mental retardation and abnormalities of chromosome 8 are often present. The exostoses in this syndrome appear identical to those of hereditary multiple exostoses (EXOSTOSES, HEREDITARY MULTIPLE). Synonyms and Source Vocabularies:
Langer-Giedion Syndrome
Acrodysplasia V
Trichorhinophalangeal Syndrome Type II
Trichorhinophalangeal Syndrome with Exostoses Bone Diseases, Developmental

44. Partial Deletion 8q Without Langer-Giedion Syndrome: A Recognisable Syndrome --
Partial deletion 8q without langergiedion syndrome a recognisable syndrome.SJ Fennell, JW Benson, AD Kindley, MJ Schwarz and B Czepulkowski
http://jmg.bmjjournals.com/cgi/content/abstract/26/3/167

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Vol Page [Advanced] This Article Submit a response Alert me when this article is cited Alert me when eLetters are posted 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 Fennell, S. J. Articles by Czepulkowski, B. Journal of Medical Genetics, 1989, Vol 26, 167-171
ARTICLES
Partial deletion 8q without Langer-Giedion syndrome: a recognisable syndrome
SJ Fennell, JW Benson, AD Kindley, MJ Schwarz and B Czepulkowski
Department of Cytogenetics, Royal Manchester Children's Hospital, Pendlebury, Manchester. We report two de novo cases of del(8)(pterq24.1:) with breakpoints involving the distal part of band 8q24.1. The clinical features were

45. The Gene For Hereditary Multiple Exostoses Does Not Map To The Langer- Giedion R
to the 8q24.1 region where a dominant syndrome with multiple exostoses, thetrichorhinophalangeal syndrome type II (TRP II, langergiedion syndrome,
http://jmg.bmjjournals.com/cgi/content/abstract/29/10/713

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Vol Page [Advanced] This Article Submit a response Alert me when this article is cited Alert me when eLetters are posted 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 Le Merrer, M. Articles by Maroteaux, P. Journal of Medical Genetics, 1992, Vol 29, 713-715
ARTICLES
The gene for hereditary multiple exostoses does not map to the Langer- Giedion region (8q23-q24)
M Le Merrer, K Ben Othmane, V Stanescu, S Lyonnet, L Van Maldergem, G Royer, A Munnich and P Maroteaux
Unite de Recherches sur les Handicaps Genetiques de l'Enfant, U12 INSERM, Hopital des Enfants Malades, Paris, France. Hereditary multiple exostoses is a dominantly inherited skeletal disorder which alters enchondral bone during growth and is characterised by exostoses of the juxta-epiphyseal regions. Using polymorphic DNA probes, we

46. Health/Support Groups/Conditions And Diseases/Facial Differences/Langer-Giedion
langergiedion syndrome The University of Houston Langer Giedion Syndrome home page . url wimp.nsm.uh.edu/lgs.html; langer-giedion syndrome Association
http://www.thedoctorslounge.net/dir/Health/Support_Groups/Conditions_and_Disease
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  • Langer-Giedion Syndrome The University of Houston Langer Giedion Syndrome home page. Information and resources for professionals and families. url: wimp.nsm.uh.edu/lgs.html Langer-Giedion Syndrome Association International network of families and professionals providing information and support to people affected by Langer-Giedion Syndrome. url: www.geocities.com/HotSprings/9308/ mozilla.org url: mozilla.org/
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    47. Trichorhinophalangeal Syndrome (syn. Of Langer-Giedion Syndrome)
    ThirdAid.com the world s first dedicated online patient to patient medical helpcommunity.
    http://www.thirdaid.com/conditions/trichorhinophalangeal_syndrome.htm

    48. LGCR (syn. Of Langer-Giedion Syndrome)
    ThirdAid.com the world s first dedicated online patient to patient medical helpcommunity.
    http://www.thirdaid.com/conditions/LGCR.htm

    49. Chromosome 8, Trisomy, Warkany Syndrome, And ...
    langergiedion syndrome LGCR LGS Partial Trisomy 8 Sugio-Kagii Syndrome *P Langer-Giedion Sindrome; LGS Trichorinophalangeal Syndrome, TypeII; TRPS2
    http://ibis-birthdefects.org/start/chrom8.htm
    Tips for printing Chromosome 8, Trisomy, Warkany Syndrome (and Related Disorders) About I.B.I.S.
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    8p Loss Chromosome 8 Deletion Langer-Giedion Syndrome LGCR LGS Partial Trisomy 8 Sugio-Kagii Syndrome Trichorinophalangeal Syndrome Trisomie Partielle 8 Trisomy 8 Trisomy 8 Mosaicism TRPS 1 TRPS 2 TRPS 3 Warkany Syndrome Special Resources Chromosome 8 A Selection of Internet Sites [*] Outstanding [P] Professionals [S] Support Groups [French] [Ukrainian] [*][P] Human Chromosome 8 Homepage The University of Houston.This page is an attempt consolidate information and resources on the physical and genetic mapping of human chromosome 8, as well as information on chromosome 8 specific genetic diseases current of interest to my research group ... [*][P] Cytogenetic and molecular evidence of constitutional mosaic trisomy 8 ... in a phenotypically normal woman J. Meck et al. As a constitutional abnormality the phenotype ranges from normal to severe. Trisomy 8 is also an acquired chromosome abnormality common in myeloid disorders ... [*][P] Genes, Location and Genetic Disorders on Chromosome 8

    50. Langer-Giedion Syndrome
    langergiedion syndrome Fact Sheet in Ukrainian by IBIS.
    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.

    51. Musculoskeletal Diseases
    langergiedion syndrome. langer-giedion syndrome Association Langer-GiedionSyndrome Information - OMIM. Disease genes on Chromosome 8 - GeneCards
    http://www.mic.ki.se/Diseases/C05.html
    search search staff sitemap
    ABOUT KAROLINSKA INSTITUTET
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    Diseases and Disorders Links pertaining to Musculoskeletal Diseases Alert! Patients and laypersons looking for guidance among the target sources of this collection of links are strongly advised to review the information retrieved with their professional health care provider. Start Page Contents: Achondroplasia Achondroplasia Acquired Hyperostosis Syndrome Acrocephalosyndactylia ... Tietze's Syndrome
    Musculoskeletal Diseases Textbook of Orthopaedics [CR Wheeless] Educational textbook syllabus [Borrill et al.] - Orthoteers (UK) The Belgian OrthoWeb - (BE) Site Map of the Orthopaedics and Sports Medicine resource at Univ of Washington, Seattle (US) The American Academy of Orthopaedic Surgeons A Musculoskeletal Atlas , an illustrated Musculoskeletal Glossary , and a set of educational cases (radiol.) - U of Washington (US) Ortho Supersite OrthoLinx WorldOrtho including A Simple Guide to Orthopaedics [RL Huckstep] - Nepean Hosp., Sydney (AU) A collection of Case discussions at OrthoGate.org

    52. The Langer-Giedion Syndrome: Report Of A 22-year Old Woman -- Wilson Et Al. 64 (
    The clinical course of patients with the langergiedion syndrome and the possibilityof malignant change in the exostoses have not been established.
    http://pediatrics.aappublications.org/cgi/content/abstract/64/4/542
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    This Article P Rs: Submit a response Alert me when this article is cited Alert me when P ... Alert me if a correction is posted Services E-mail this article 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 Wilson, W. G. Articles by Aylsworth, A. S.
    The Langer-Giedion syndrome: report of a 22-year old woman
    WG Wilson, RT Herrington and AS Aylsworth A 22-year-old woman with the Langer-Giedion syndrome and delayed puberty is presented. Pertinent features include a bulbous nose, sparse hair, protruding ears, multiple cartilaginous exostoses, cone-shaped phalangeal epiphyses, short stature, microcephaly, and mental retardation. She is the oldest patient thus far described with this condition, and is compared to the ten previously published cases. The clinical course of patients with the Langer-Giedion syndrome and the possibility of malignant change in the exostoses have not been established.

    53. Orthoguide.com Langer-Giedion Syndrome
    Search AltaVista for langergiedion syndrome Global Search - Add Url - FreeMedline - Contact Us - Search. Enter Keywords to Search and Your Choice of
    http://www.orthoguide.com/ortho/Langer-Giedion_Syndrome.php3
    Can't open file: 'adviews.MYI'. (errno:

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

    55. Online And Offline Support: L
    langergiedion syndrome. langer-giedion syndrome Association. People servedIndividuals and families dealing with langer-giedion syndrome
    http://www.widesmiles.org/support/l.html
    L Langer-Giedion Syndrome Langer-Giedion Syndrome Association
    • People served: Individuals and families dealing with Langer-Giedion Syndrome Services provided: Information, public awareness, support for families, newsletter, and advocacy for research Contact people: Laurence-Moon-Bardet-Biedl Syndrome Please note: Laurence-Moon-Bardet-Biedl Syndrome includes specific facial characteristics that do not require reconstructive surgery. The LMBBS Society (United Kingdom)
      • People served: Families dealing with Laurence-Moon-Biedl Syndrome Services provided: Support and information Address: Spring Grove, Loudhams Wood Lane, Chalfont St Giles Bucks HP8 4AR Phone number: 01494 764924
      Laurence Moon Bardet Biedl Syndrome (United States)
      • People served: Families dealing with Laurence Moon Bardet Biedl Syndrome Services provided: Support and information Address: 124 Lincoln Avenue, Purchase NY 10577

    56. Qango : Health: Diseases And Conditions: L: Langer-Giedion Syndrome
    langergiedion syndrome, all of Qango only this category, Options Help Home Health Diseases and Conditions L langer-giedion syndrome
    http://www.qango.com/dir/Health/Diseases_and_Conditions/L/Langer-Giedion_Syndrom
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    Langer-Giedion Syndrome

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    57. Langer-Giedion Syndrome
    langergiedion syndrome Medical.WebEnds.com. langer-giedion syndrome.Acrodysplasia V; Giedion-Langer Syndrome; Trichorhinophalangeal Syndrome Type II;
    http://medical.webends.com/kw/Langer-Giedion Syndrome
    Medical.WebEnds.com - Medical Terminology Dictionary
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    Langer-Giedion Syndrome
    Acrodysplasia V; Giedion-Langer Syndrome; Trichorhinophalangeal Syndrome Type II; Trichorhinophalangeal Syndrome with Exostoses; Giedion Langer Syndrome; Langer Giedion Syndrome; Syndrome, Giedion-Langer; Syndrome, Langer-Giedion Autosomal dominant disorder characterized by cone-shaped epiphyses in the hands and multiple cartilaginous exostoses Mental retardation and abnormalities of chromosome 8 are often present. The exostoses in this syndrome appear identical to those of hereditary multiple exostoses EXOSTOSES , HEREDITARY MULTIPLE).
    Google links
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    58. MeSH-D Terms Associated To MeSH-C Term Langer-Giedion Syndrome
    MeSHD terms associated to MeSH-C term langer-giedion syndrome, G2D Home of the association of the corresponding term to langer-giedion syndrome.
    http://www.bork.embl-heidelberg.de/g2d/c2d.pl?Langer-Giedion_Syndrome:unknown

    59. OMIM Entry 150230
    In a patient with langergiedion syndrome and interstitial 8q deletion, (1987) concluded that the langer-giedion syndrome is due to a deletion extending
    http://www.hgmp.mrc.ac.uk/cgi-bin/wrapomim?150230

    60. OMIM Entry 190350
    The langergiedion syndrome (150230), a similar disorder that includes also This is further support for the notion that the langer-giedion syndrome is
    http://www.hgmp.mrc.ac.uk/cgi-bin/wrapomim?190350

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