81. LANGER-GIEDION (TRICHO-RHINO-PHALANGEAL) SYNDROME Features Listed For langergiedion (TRICHO-RHINO-PHALANGEAL) syndrome.McKusick 150230. Abdominal muscle hypoplasia/aplasia; Cartilaginous http://www.hgmp.mrc.ac.uk/dhmhd-bin/hum-look-up?971

82. Langer Giedion Syndrome Back Home Next. Langer Giedion syndrome. The Wells Lab Langer Giedion syndromeHome Page. Copyright of Ability All Rights Reserved1990 Webmaster . http://www.ability.org.uk/Langer_Giedion_Syndrome.html

Our Aims Services Stats ... Z Langer Giedion Syndrome Langer-Giedion Syndrome Association - An international network of families and professionals dedicated to providing information and support to people. The Wells Lab Langer Giedion Syndrome Home Page Webmaster . Site Design by Ability "see the ability, not the disability" Acknowledgments

83. Birth Disorder Information Directory - L LandouzyDejerine Dystrophy See Facioscapulohumeral Muscular Dystrophy.Langer Giedion syndrome (Trichorhinophalangeal syndrome, Type II) http://www.bdid.com/defectl.htm

HOME L Laband Syndrome See Zimmerman Laband Syndrome Lacrimal Duct Defect LACRIMAL DUCT DEFECT Lacrimoauriculodentodigital Syndrome (Levy Hollister Syndrome) LACRIMOAURICULODENTODIGITAL SYNDROME; LADD Lacunar Skull See Craniolacunia Ladda Zonana Ramer Syndrome (Contractures Ectodermal Dysplasia Cleft Lip Palate) Contractures ectodermal dysplasia cleft lip palate Arthrogryposis, Ectodermal Dysplasia, Cleft Lip/Palate, and Developmental Delay Lambert Syndrome (Branchial Dysplasia Mental Retardation Inguinal Hernia) branchial dysplasia mental retardation inguinal hernia LAMBERT SYNDROME Landings Disease (GM 1 gangliosidosis) Landings Disease Landings Disease Landouzy-Dejerine Dystrophy See Facioscapulohumeral Muscular Dystrophy Langer Giedion Syndrome (Trichorhinophalangeal Syndrome, Type II) Langer Giedion Syndrome Langer-Giedion Syndrome Association LANGER-GIEDION SYNDROME; LGS Langer Mesomelic Dysplasia (Dyschondrosteosis, Homozygous; Mesomelic Dwarfism of the Hypoplastic Ulna, Fibula, and Mandible Type) LANGER MESOMELIC DYSPLASIA Langer Nishino Yamaguchi Syndrome (Brachymesomelia Renal Syndrome) brachymesomelia renal syndrome BRACHYMESOMELIA-RENAL SYNDROME Laron Syndrome (Pituitary Dwarfism II) PITUITARY DWARFISM II Larsen Syndrome Recessive LARSEN SYNDROME, RECESSIVE

84. Langer – Giedion Syndrome click For Medical Professionals only. Langer – giedion syndrome,,Print this article, (Leonard Langer, 20th century, American http://www.amershamhealth.com/medcyclopaedia/Volume VII/LANGER GIEDION SYNDROME

Medcyclopaedia About Medcyclopaedia Amersham Health Search for: Type a word or a phrase. All forms of the word are searchable. Advanced search Browse entry words starting with: A B C D ... Other characters Try our Medcyclopaedia Premium Edition with added tools and functionality tailored to make your working day easier. The following tools are presently available: Expanded search *For Medical Professionals only, registration required Langer – giedion syndrome, (Leonard Langer, 20th century, American paediatric radiologist; Andreas Giedion, 20th century, Swiss paediatric radiologist). Clinically the patients appear similar to trichorhinophalangeal dysplasia Type I but have in addition short stature and mental retardation. Radiographically, in addition to the features seen in Type I, there are multiple cartilaginous exostoses. HC The Encyclopaedia of Medical Imaging Volume VII Welcome to Medcyclopaedia. This site is open to a public audience, still we want to know a little more about our visitors. Please tick off the boxes that match your profile. Do you live in Europe?

85. Canadian Directory Of Genetic Support Groups Langer Giedion syndrome Association Louise Kinross LGSA Cofounder 89 Ingham AvenueToronto, Ontario, Canada, M4K 2W8 Tel (416) 465-3029 Fax (416) 465-4963 http://www.lhsc.on.ca/programs/medgenet/langergi.htm

Index by support group Canadian Directory of Genetic Support Groups Langer Giedion Syndrome Association Louise Kinross LGSA Co-founder 89 Ingham Avenue Toronto, Ontario, Canada, M4K 2W8 Tel: (416) 465-3029 Fax: (416) 465-4963 Website: http://lgsa.net/ Page revised:July 30, 2002 Maintained by: Janice Little Index by disease/ disorder Return to Programs and Services Questions? Comments? Contact Janice Little London Health Sciences Centre . Please read our

86. Canadian Directory Of Genetic Support Groups Lactic Acidosis Support Group ( LacticAcidosis) Langer Giedion syndrome Association(Langer Giedion syndrome) Late Onset Tay-Sachs Foundation (Late Onstet Tay http://www.lhsc.on.ca/programs/medgenet/l_sup.htm

Index by support group Canadian Directory of Genetic Support Groups Lactic Acidosis Support Group ( Lactic-Acidosis) Langer Giedion Syndrome Association (Langer Giedion Syndrome) Late Onset Tay-Sachs Foundation (Late Onstet Tay-Sachs) Laurence Moon Bardet Biedl Syndrome (Laurence Moon Bardet Biedl Syndome) Learning Differences (Attention Deficit Disorder- ADD/ADHD) Learning Disabilities Association of Canada (Learning Disabilities, Dyslexia) Leber's Optic Neuropathy Trust (Leber's Optic Neuropathy) Lissencephaly Network (Lissencephaly) Little People of Ontario (Achondroplasia, Dwarfism, Short Stature, Turner Syndrome) (Little People of British Columbia) LPBC Society for Short Stature Awareness (Achondroplasia, Dwarfism, Short Stature, Turner Syndrome) Lowe Syndrome Association Inc.

87. Chromosome Help-Station Discussion TOC (Framed) Jan 2003 Re Growth Hormon and Langer Giedion Syndrom 15 Jan 2003 We are an internationalparental support group for families and friends with WAGR syndrome. http://www.chromosomehelpstation.com/disc_tocf.htm

CONTENTS Deletion 7 Annet van Betuw 16 Mar 2003 report 2002 Conference Eur. Chromosome 11q Network Annet van Betuw 09 Mar 2003 chromosome 2 missing pease+dandy walker syndrome tim.minne@pandora.be 10 Feb 2003 chromosome 18p / 18q Katharine Frenken (orig. posted dec 2002) 15 Jan 2003 Deletion Chromosome 10q Nele van Hoye 15 Jan 2003 Re: Deletion Chromosome 10q Annet van Betuw 12 Mar 2003 Re: Deletion Chromosome 10q dawn 11 Mar 2003 Re: Deletion Chromosome 10q Annet van Betuw 12 Mar 2003 Re: Deletion Chromosome 10q (orig. posted 2002) Joseph 15 Jan 2003 Chromosome 4q (orig. posted 202) 15 Jan 2003 Re: Chromosome 4q (orig. posted 202) paradise 18 Mar 2003 Growth Hormon and Langer Giedion Syndrom Annet (orig. posted 2002) 15 Jan 2003 Re: Growth Hormon and Langer Giedion Syndrom 15 Jan 2003 We are an international parental support group for families and friends with WAGR Syndrome. Cathy273@msn.com (orig. posted 2002) 15 Jan 2003 Klippel Trenauney Syndroom Mieke van Rijn-Remans 15 Jan 2003 Re: Klippel Trenauney Syndroom Rinze van der Lei (orig. posted 2002) 15 Jan 2003 Re: Klippel Trenauney Syndroom 15 Jan 2003 Wagr-syndrome 15 Jan 2003 Re: 11P + Wagr - syndrome (jan 18, 2003)

88. Katalog - Wirtualna Polska Serwis Katalog w Wirtualna Polska S.A. pierwszy portal w Polsce. http://katalog.wp.pl/DMOZ/Health/Consumer_Support_Groups/Facial_Differences/Lang

Poczta Czat SMS Pomoc Szukaj.wp.pl: -Katalog -Polskie www -¦wiatowe www -Wirtualna Polska -FTP/Pliki -Grupy dyskusyjne -Encyklopedia -Produkty wp.pl Katalog Katalog ¦wiatowy DMOZ ... Consumer Support Groups > Facial Differences Fakty o Katalogu Pomoc Regulamin Serwis szukaj ... Ostatnio dodane NAWIGACJA Fakty o katalogu Pomoc Regulamin Serwis Szukaj ... FAQ Dodaj stronê Katalog WP Polskie Strony WWW Oferta dla firm WP-HIT ... Wirtualna Polska

89. Langer-Giedionin Oireyhtymä Kehitysvammahuollon tietopankki. Harva tukka, sipulinmuotoinen nenä,luustohäiriöt, kehitysvammaisuus, pienipäisyys ja liikaihoisuus. http://www.saunalahti.fi/kup/syndroma/langer_g.htm

Kehitysvammahuollon tietopankki Harva tukka, sipulinmuotoinen nenä, luustohäiriöt, kehitysvammaisuus, pienipäisyys ja liikaihoisuus Langer-Giedionin oireyhtymä Langer-Giedionin oireyhtymä on tartuntageenisairaus. Sen aiheuttaa sekä hius-nenä-sormijäsen-geenin (TRPS1) että luukasvama-geenin (EXT1) kopioitumishäiriö. Häiriötila muistuttaa triko-rhino-falangeaalisen oireyhtymän 1. tyyppiä, jolle on ominaista sipulimainen nenä, harva tukka ja kartiomaiset luunpäät. Sen lisäksi oireisiin kuuluvat kehitysvammaisuus pienipäisyys , luuliikamat ja ja liikaihoisuus. Oireyhtymään vähemmän kiinteästi kuuluvia piirteitä ovat ylitaipuisat nivelet, toistuvat hengitysteiden infektiot ja puheen kehityksen jälkeenjääneisyys. Vatsa saattaa näyttää liiallisen ihon takia osin samalla tavalla ryppyiseltä kuin Prune Bellyn oireyhtymässä ja kulmakarvat voivat olla tuuheat. Myös kohdun alueen (kohtuontelon verenkertymä, vesikohtuemätin) ja virtsateiden (virtsan takaisinvirtaus) vikojen riski on kasvanut. Vaikka oireyhtymää pidetään vallitsevasti periytyvänä , kaikki tähän asti tunnetut tapaukset ovat olleet satunnaisia. Vammautuneiden enemmistö on miehiä.

90. Page 2 JacksonWeiss National Organization of Rare Disorders OMIM. Langer Giedion Langer-GiedionSyndrome Association National Organization of Rare Disorders. http://members.tripod.com/~Craniofacial/page2.htm

J - Z The Craniofacial Disorders indexed on this page are: Jackson-Weiss, Langer-Geidon, Parry-Rombergs, Pfeiffer, Pierre-Robin, Russell-Silver, Saethre-Chotzen, Sagittal Synostosis, Shprintzen-Goldberg, Stickler, and Treacher-Collins. Page 1 includes Antley-Bixler, Apert, Arhinia, Baller-Gerold, Carpenter, Craniosynostosis, Crouzon and Goodman. Jackson-Weiss National Organization of Rare Disorders OMIM Langer Giedion Langer-Giedion Syndrome Association National Organization of Rare Disorders Parry-Rombergs (Rombergs) National Organization of Rare Disorders Online Mendelian IM entry NINDS Rombergs Connection Pfeiffer Syndrome MacKenzie's Page Haley's Page National Organization of Rare Disorders OMIM ... Ped Database Pierre-Robin Syndrome/Sequence Garland Neal's PRS Story Pierre Robin Network National Organization of Rare Disorders Ped Database Russell-Silver The Magic Foundation NORD OMIM Saethre-Chotzen (Chotzen) NORD OMIM Ped Database Sagittal Synostosis Sagittal Synostosis Cranio Support Group Sagittal Synostosis Homepage Shprintzen-Goldberg NORD Search their database, articles are available.

91. Abstract Original Investigation. Genes and chromosomal breakpoints in the LangerGiedionsyndrome region on human chromosome 8. Hermann-Josef http://link.springer-ny.com/link/service/journals/00439/contents/99/00176/s00439

Original Investigation Genes and chromosomal breakpoints in the Langer-Giedion syndrome region on human chromosome 8 , Olaf Schmidt , Judith Nardmann , Diane von Holtum , Peter Meinecke , Maximillian Muenke and Bernhard Horsthemke Division of Human Genetics and Molecular Biology, The Children's Hospital of Philadelphia, Pennsylvania, USA Present address : Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Md., USA Abstract. The tricho-rhino-phalangeal syndrome type II (TRPS II, or Langer-Giedion syndrome) is an example of contiguous gene syndromes, as it comprises the clinical features of two autosomal dominant diseases, TRPS I and a form of multiple cartilaginous exostoses caused by mutations in the gene. We have constructed a contig of cosmid, -phage, PAC, and YAC clones, which covers the entire TRPS I critical region. Using these clones we identified a novel submicroscopic deletion in a TRPS I patient and refined the proximal border of the minimal gene region by precisely mapping the inversion breakpoint of another patient. As a first step towards a complete inventory of genes in the Langer-Giedion syndrome chromosome region (LGCR) with the ultimate aim to identify the

92. Mini-MIM For OMIM ENTRY 133700 Multiple exostoses also occur in metachondromatosis (156250) and the LangerGiedionsyndrome (LGS; 150230), and exostosis-like lesions occur with http://caroll.vjf.cnrs.fr/cancergene/133700.mini.html

*133700 EXOSTOSES, MULTIPLE, TYPE I Mini-MIM is updated only periodically. Creation and edit dates will soon appear on all mini-MIMs; however, to ensure that you are viewing the most up-to-date information, please check the full OMIM entry. MINI-MIM Multiple exostoses, type I (EXT1) is characterized by cartilaginous excrescences, near the ends of the diaphyses of the bones of the extremities, that undergo ossification. The upper end of the femur and the pelvis are the main locations of exostoses, and they are also found in the shoulder girdle and ribs, but not the skull. Deformity of the legs, forearms (resembling Madelung deformity), and hands (e.g., short metacarpal) is frequent. The patients are often of reduced stature. The natural history was reviewed by Wicklund et al. (1995) and Peterson (1989) discussed the orthopedic management. Penetrance is 100%. Males have more severe and more frequent complications. Malignancies occur in around 0.5 to 2% of cases, rarely before the tenth or after the fiftieth year. Multiple exostoses also occur in metachondromatosis ( ) and the Langer-Giedion syndrome (LGS;

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