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
Extractions: 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.
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
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
Extractions: 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.
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
Extractions: 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].
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
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
Extractions: 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
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
Extractions: 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.
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
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
Extractions: 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 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.
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
Extractions: 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
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
