81. Server/Human/doc : use in positional cloning and deletion analysis of langergiedion syndrome . chromosome 8 surrounding the langer-giedion syndrome deletion region. http://veille-srv.inist.fr/bin/dilib/AppliHuman2/doc.fibres.cgi?/applis/veille/h

82. Ear, Nose & Throat Journal: Avoiding Perils And Pitfalls In Velocardiofacial Syn Velocardiofacial syndrome is classically characterized by clefting of the facies include myotonic dystrophy, langergiedion syndrome, DiGeorge syndrome, http://www.findarticles.com/p/articles/mi_m0BUM/is_1_82/ai_97754545

@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 Jan 2003 Content provided in partnership with 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 Avoiding perils and pitfalls in velocardiofacial syndrome: an otolaryngologist's perspective - Original Article Jan, 2003 by Benjamin B. Maj. Cable Eric A. Lt.Col. Mair Save a personal copy of this article and quickly find it again with Furl.net. It's free! Save it. Abstract Velocardiofacial syndrome is classically characterized by clefting of the secondary palate, cardiac defects, learning disabilities, and facial dysmorphism. Knowledge of this syndrome is of significant importance to otolaryngologists because a failure to recognize it prior to head and neck surgery can result in serious iatrogenic injury, including velopalatal insufficiency and damage to anomalous carotid arteries. To illustrate these issues, we describe the case of a 5-year-old boy with velocardiofacial syndrome. We also review the literature on velocardiofacial syndrome, which is not very extensive, perhaps because it is often difficult to recognize.

83. Rarelink.net - Diagnoselisten Langer-Giedion Syndrom LangerGiedion syndrom (Trichorhinophalangeal Syndrome, Type II) Langer-Giedionsyndrom; Trichorhinophalangealt syndrom, type II, langer-giedion syndrome. http://www.rarelink.dk/diagnosedetail.jsp?diagnoseId=153&synonymId=314

84. Www.nlm.nih.gov/cgi/mesh/2K/MB_cgi?term=Langer-Gie Genetic Conditions ListLandauKleffner syndrome langer-giedion syndrome Larsen syndrome Laurence-Moon-BiedlLebers Optic Atrophy Leigh Disease. Leopard syndrome http://www.nlm.nih.gov/cgi/mesh/2K/MB_cgi?term=Langer-Giedion Syndrome

85. Microcephaly Definition - Medical Dictionary Definitions Of Popular Medical Term langergiedion syndrome, Prader-Willi syndrome, and the aniridia-Wilms tumorsyndrome. Genetic disorders such as the Johanson-Blizzard syndrome, http://www.medterms.com/script/main/art.asp?articlekey=4373

86. TRP TRP syndrome Type II is also called the langergiedion syndrome, named after thefirst two people who described the condition fully. http://www.nfed.org/TRP.htm

Request Information Information Request Form Publications Contact Us About The NFED Board of Directors Conferences History Meet Some of Our Families ... Vision, Mission, Values About Ectodermal Dysplasia FAQs / General Description Genetics Medical Articles ... Types of ED Support Kids' Corner Teens Parents / Adults Research General Announcements Current ED Research Completed ED Research Grant Application Process Giving Donate Fundraising Events Sponsorship Opportunities Types of Gifts ... Your Donations At Work Trichorhinophalangeal Syndromes L. Stefan Levin, D.D. S., M.S.D TRP is a type of ED identified by problems with the hair, teeth and nails. There are several types of trichorhinophalangeal syndromes, TRP syndrome Type I is characterized primarily by abnormalities of the bones and hair. Some of the finger joints may be enlarged, and the thumbs and big toes are usually short; other fingers and toes may also be short. Scalp hair is often fine, sparse and brittle, and is abnormal from birth. Scalp hair is especially scant in the front, simulating the male baldness pattern, and some individuals, may become completely bald. Eyebrows are thick near the nose, but sparse on their lateral aspects. In addition, the tip of the nose is bulbous, the midportion of the upper lip is long, and the upper lip is thin. Intraorally, extra teeth have been found. Nails may be thin. About one half of affected individuals are shorter than normal. Intelligence is normal as is the ability to perspire. In most families with the disorder, the inheritance pattern is autosomal dominant. However, a few families have been reported in which the condition may be inherited as an autosomal recessive. It is not possible to differentiate the dominant and recessive forms from one another on the basis of clinical or x-ray examination. So the family history and examination of both parents are important in order to determine the pattern of inheritance.

87. TheFetus.net - Microcephaly -Gianluigi Pilu And Philippe Jeanty DeLange syndrome. JohansonBlizzard syndrome. langer-giedion syndrome.Rubenstein-Taybi syndrome. Williams syndrome. 2. Undefined combinations http://www.thefetus.net/page.php?id=127

88. Langer-Giedion, Syndrome : Sites Et Documents Francophones Translate this page langer-giedion, syndrome de Par Dr Aymé S (Orphanet - INSERM SC 11). Site éditeurOrphanet base de données sur les maladies rares et les médicaments http://www.chu-rouen.fr/ssf/pathol/langergiedionsyndrome.html

Langer-Giedion, syndrome Synonyme(s) CISMeF Langer-Giedion ; 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 maladies de l'appareil locomoteur 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

89. Langer-giedion, Syndrome : Arborescences MeSH http://www.chu-rouen.fr/navimesh/L/navilangergiedionsyndrome.html

Langer-giedion, syndrome : arborescences MeSH Vous pouvez aussi consulter toutes les arborescences des mots clés utilisés dans CISMeF maladies de l'appareil locomoteur os, maladies dysplasies os ostéochondrodysplasies ... polydactylie côte courte, syndrome 25 février 2005 courriel Menu général CISMeF Haut de page © CHU de Rouen . Toute utilisation partielle ou totale de ce document doit mentionner la source.

90. ORPHANET - Maladies Rares - Médicaments Orphelins Translate this page Le syndrome de langer-giedion est caractérisé par un nez bulbeux, des oreillesdécollées, des cheveux clairsemés, des épiphyses en cône au niveau des http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=502

91. Langer-Giedion, Syndrome De Translate this page Base de données sur les maladies rares et les médicaments orphelins. http://www.orpha.net/static/FR/langergiedion.html

Accès à la base de données Orphanet Langer-Giedion, syndrome de Accès direct aux détails Résumé Le syndrome de Langer-Giedion est caractérisé par un nez bulbeux, des oreilles décollées, des cheveux clairsemés, des épiphyses en cône au niveau des phalanges, des exostoses cartilagineuses multiples et un retard mental léger ou modéré. Sa transmission est autosomique dominante. Il est dû à une microdélétion chromosomique de la région 8q23.3-q24.13 entraînant la perte d'au moins deux gènes : et . *Auteur : Equipe Editoriale d'Orphanet (septembre 2002)*. Signes de la maladie ARC CUPIDON ABSENT/PHILTRUM PLAT-LARGE DELETION CHROMOSOMIQUE SUB-MICROSCOPIQUE EPIPHYSES EN CONE EXOSTOSES LEVRES MINCES/RETRACTEES MICROCEPHALIE OREILLES DECOLLEES/PROEMINENTES PHILTRUM LONG RETARD MENTAL MODERE / LEGER SOURCILS CLAIRSEMES/ABSENTS/FINS ASYMETRIE CORPORELLE / HEMITROPHIE CHEVEUX RARES/HYPOTRICHIE/ATRICHIE DENTS MAL IMPLANTEES ENOPHTALMIE FENTE PALPEBRALE ANTIMONGOLOIDE HYPERTELORISME MACROSTOMIE/GRANDE BOUCHE MAINS COURTES/BRACHYDACTYLIE NEZ LARGE/ARETE NASALE LARGE NEZ LONG/GROS/EN BULBE OMOPLATE ANOMALIE ONGLES FINS / HYPOPLASIQUES (PIEDS) ONGLES FINS/HYPOPLASIQUES (MAINS) OREILLE GRANDE/LONGUE/LARGE PETITE TAILLE / NANISME TRISOMIE OU MONOSOMIE TOTALE/PARTIELLE CLINODACTYLIE DU 5EME DOIGT FACE ETROITE FRONT LARGE HEMIVERTEBRES/FUSIONS VERTEBRALES HYPERLAXITE LIGAMENTAIRE LEVRES EPAISSES NAEVI PIGMENTES OREILLES BAS IMPLANTEES PALAIS OGIVAL/ETROIT PEAU HYPERELASTICITE PIED BOT VARUS/VALGUS SCOLIOSE SPINA BIFIDA OCCULTA STRABISME THORAX ETROIT

92. Trichorhinophalangeal Syndrome,TRPS,Langer Giedion Syndrome,TRPS1 Trichorhinophalangeal syndrome,TRPS,Langer Giedion syndrome,TRPS1,TRPS2,TRPS3,SugioKajii syndrome,Trichorhinophalangeal syndrome,TRPS,Langer Giedion http://www.icomm.ca/geneinfo/trps.htm

93. Langer Giedion Syndrome Complete online version of The Encyclopaedia of Medical Imaging including textand images from The Encyclopaedia of Medical Imaging s eight book volumes http://www.amershamhealth.com/medcyclopaedia/medical/Volume VII/LANGER GIEDION

financial services our commitment our company Search Medcyclopaedia for: Search marked text (mark text before you click) Browse entry words starting with: A B C D ... amershamhealth.com 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 Corporate Products Financial Services Our Commitment ... Terms of Conditions

94. Canadian Directory Of Genetic Support Groups Langer Giedion syndrome Association Louise Kinross LGSA Cofounder 89 InghamAvenue Toronto, 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: Langer Giedion Syndrome Association 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

95. Link Directory - Finnish Information Center On Mental Retardation Langer Giedion syndrome Home Page, The University of Houston Langer Giedionsyndrome Association Langer Giedion syndrome Association, Raquel Rozenberg http://www.saunalahti.fi/kup/engl/webs_l.html

Finnish Information Center on Mental Retardation English links A B C D ... Z Lambotte syndrome Lambotte syndrome, OMIM, Victor A. McKusick Private multiple congenital anomaly syndromes may result from unbalanced subtle translocations: t(2q;4p) explains the Lambotte syndrome., Herens C et al, PubMed Lambotte syndrome: microcephaly, holoprosencephaly, intrauterine growth retardation, facial anomalies, and early lethalitya new sublethal multiple congenital anomaly/mental retardation syndrome in four sibs, Verloes A et. al, PubMed Langer-Giedion Syndrome Langer-Giedion Syndrome; LGS, OMIM, Victor A. McKusick Trichorhinophalangeal Syndrome Type II (NORD) Langer Giedion Syndrome Home Page, The University of Houston Langer Giedion Syndrome Association, USA ... Yahoo! Directory Langer-Giedion Syndrome Laurence-Moon-Bardet-Biedl Syndrome Laurence-Moon-Bardet-Biedl Syndrome, Family Village LAURENCE-MOON SYNDROME, OMIM, Victor A. McKusick BARDET-BIEDL SYNDROME; BBS, OMIM, Victor A. McKusick et al. BBS1 GENE; BBS1, OMIM. Victor A. McKusick ... The Laurence-Moon-Bardet-Biedl Society Lennox-Gastaut Syndrome Lennox-Gastaut Syndrome, EPINET, Epilepsy Foundation of Victoria (Australia)

96. MHE Research Directory Scientific Advisor for the Langer Giedion syndrome Association * Member of theAmerican Society for Human Genetics Publications (Only EXT relevant http://www.mhecoalition.com/ResearchDirectory.html

Researcher Directory Jacqueline T. Hecht, Ph.D. Professor of Pediatrics University of Texas Houston Medical Center Phone: 713-500-5763 E-mail: Jacqueline.T.Hecht@uth.tmc.edu http:/gsbs.gs.uth.tmc.edu/tutorial/hecht.html The goal of our Hereditary Multiple Exostoses research has been to understand how and why the exostoses develop. Mutations in either EXT1 or EXT2 genes are the cause of the HME, but how mutations affect chondrocyte development and function is unknown. Our studies focus on the exostoses chondrocytes that we isolate from the exostoses that are surgically removed from patients age 16 and under. Wendy H. Raskind, M.D., PhD Associate Professor of Medicine Department of Medicine University of Washington E-mail: wendyrun@washington.edu Current research involves investigating the kinds of mutations that occur in the EXT 1 and EXT2 genes. Also of interest is the sequence of steps that take place in the progression from normal cells to exostosis to chondrosarcoma. Samples are accepted from patients with MHE and their family members; however, the priority is for individuals with large enough families to determine which of the genes is involved before sequence analysis is done. Of further interest are individuals with or having a family history of chondrosarcoma or osteosarcoma, as well as families having other unusual manifestations, such as early osteoarthrities or osteoporosis. Jeffrey D. Esko, Ph.D.

97. The MAGIC Foundation Kleinfelters syndrome. Kniest syndrome. Langer Giedion syndrome Possible.Leopard syndrome. Leri Weill possible. Leukemia/Bone Marrow Transplant/Failure to http://www.magicfoundation.org/www/docs/111/rare_disorders.html

Members Only Hypophosphatasia Failure to Thrive Networking ... Rare Disorders Rare Disorders Alphabetically listed, Please scroll down to view. The MAGIC Foundation is always expanding to meet the needs of many diversely affected people. In addition to the more prevalent syndromes detailed throughout this site, we also have families and/or affected people with the other medical conditions (partial listing below). This list is constantly changing and has some links to other support organizations which we have no one networked for. We have supplied them here for your easy referal. If you need more information pertaining to the conditions on this page, feel free to contact us. If you would like to network with families we have associated with these conditions, please contact our office. If you are a medical professional and have patients with these diagnoses, feel free to mention our networking to them. If you do not see your disorder listed, please contact our office for the most up to date listing. 6p25 Chromosome Deletion/ Riegers Anomly (Syndrome) Aarskog

98. Health Library - NORD National Organization for Rare Disorders, Inc.Synonyms of Trichorhinophalangeal syndrome Type II. Langer Giedion syndrome;TRPS2. Disorder Subdivisions. General Discussion http://12.42.224.150/library/healthguide/en-us/SelfHelp/topic.asp?hwid=shc29lan

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