Arquivos Brasileiros De Oftalmologia - Translate this page 9. Stigglebout W. The Bardet-Biedl syndrome including Hutchinson-laurence-moon syndrome. In Vinkin PJ, Bruyn GW, editors. Bell J. The laurence-moon syndrome. http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-27492003000500024&l
Extractions: Web Pages - ranked by popularity Laurence Moon Bardet Biedl Society http://www.lmbbs.org.uk Fully accessible site for people with LMBB, their families, friends, carers and interested professionals. Opinions, news, views, research, updates, and contact details. NORD: Laurence Moon Syndrome http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Laurence%20Moon%20Syndrome Offers alternative names, a general discussion and further resources. Pediatric Database http://www.icondata.com/health/pedbase/files/LAURENCE.HTM A definition of Laurence-Moon syndrome followed by the epidemiology, pathogenesis, clinical features, investigations and management. National Library of Medicine: Laurence-Moon Syndrome A look at its former names, a summary and a list of clinical features.
MeSH-D Terms Associated To MeSH-C Term Laurence-Moon Syndrome MeSHD terms associated to MeSH-C term laurence-moon syndrome, G2D Home. The number indicates the strength of the association of the http://www.bork.embl-heidelberg.de/g2d/c2d.pl?Laurence-Moon_Syndrome:unknown
Laurence-Moon-Bardet-Biedl Syndrome / Family Village Library Who to Contact. Where to Go to Chat with Others. Learn More About It. Web Sites. Search Google for "Laurence Moon Bardet Biedl syndrome" Who to Contact. Where to Go to Chat with Others. LMBBS http://www.familyvillage.wisc.edu/lib_lmbb.htm
Extractions: helpful? yes no Bardet-Biedl syndrome: BBS; Laurence-Moon-Bardet-Biedl syndrome The syndrome is a rare inherited condition which is variable in the way in which it presents. Characteristics are rod/cone dystrophy (atypical retinitis pigmentosa - a progressive eye condition which can lead to blindness (see Visual Impairment )); obesity (usually with an early onset and resistant to treatment); polydactyly (extra fingers and/or toes); hypogenitalism (underdeveloped genitals); mild to severe learning difficulties. Usually four out of these five features are required to make the diagnosis. In addition, there are other important characteristics which need to be taken into account: kidney malformations and renal dysfunction; developmental delay; speech difficulties; diabetes mellitus and, rarely, diabetes insipidus; hepatic fibrosis and other hormonal deficiencies. In the Middle-East and island communities such as Newfoundland, the condition is relatively common, occurring at rates of 1 in 13,500 of the population. In Europe and the UK the prevalence is much less common owing to lower consanguinity. The figure is probably around 1 in 100,000 of the population. Although BBS is not common it is certainly under diagnosed. As awareness of the condition increases, the number of people identified is growing every year.
Mary's Pages Raises public awareness of the laurencemoon Bardet-Biedl syndrome and serves as a place for parents of LMBBS children to meet and exchange ideas. http://www.geocities.com/HotSprings/Spa/1761/
Laurence-Moon, Syndrome : Sites Et Documents Francophones Translate this page laurence-moon, syndrome. Menu général CISMeF. Arborescence(s) du thesaurus MeSH contenant le mot-clé laurence-moon, syndrome Laurence Moon syndrome http://www.chu-rouen.fr/ssf/pathol/laurencemoonsyndrome.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, sites internet, dysmorphologie, conseil génétique, associations de patients ; pays : France ; langue : français ; format : html ; accès : gratuit ; non parrainé ; daté de : 2002 ; visité le : 17/09/2003].
Laurence-Moon, Syndrome : Arborescences MeSH Translate this page laurence-moon, syndrome arborescences MeSH. Menu général CISMeF. Vous pouvez aussi consulter toutes les arborescences des mots http://www.chu-rouen.fr/navimesh/L/navilaurencemoonsyndrome.html
Extractions: Le syndrome de Laurence-Moon est un syndrome génétique autosomique récessif d'étiologie inconnue. Il est caractérisé par des manifestations neurologiques, ophtalmologiques et endocriniennes progressives provoquant une détérioration gravement handicapante. Les manifestions neurologiques incluent un retard mental et une ataxie qui conduit à une paraplégie spastique progressive chez l'adulte jeune. Les manifestations ophtalmologiques consistent en des taches rétiniennes dues à la finesse de la rétine ; celles-ci évoluent vers une atrophie optique entraînant une cécité. Un hypogénitalisme est présent dès la naissance. Il est lié à un hypogonadisme hypogonadotrope. La prise en charge tend à palier les déficits. Ce syndrome est plus fréquent dans la population arabe du Koweït. *Auteur : Dr S. Aymé (septembre 2002)*. Signes de la maladie ANTITRAGUS ANORMAL OBESITE GENERALISEE POLYDACTYLIE DU MEMBRE SUPERIEUR RETARD MENTAL / PSYCHO-MOTEUR SYNDACTYLIE DES DOIGTS TRANSMISSION AUTOSOMIQUE RECESSIVE INSUFFISANCE RENALE MICROPENIS/VERGE PETITE PETITE TAILLE / NANISME SURDITE DE PERCEPTION TESTICULE ECTOPIE/CRYPTORCHIDIE ATAXIE / INCOORDINATION BRACHYCEPHALIE/OCCIPUT PLAT CARDIOPATHIE CONGENITALE CATARACTE DIPLEGIE/PARAPLEGIE/QUADRIPLEGIE EPICANTHUS FIBROSE HEPATIQUE CONGENITALE HYPERGLYCEMIE/DIABETE NON INS. DEP.
Extractions: Sabrina Parker Introduction Laurence-Moon-Bardet-Biedl syndrome (LMBBS) is an autosomal recessive genetic disorder characterized by obesity, retinal degeneration, extra digits on the hands and feet, and intellectual impairment. In an autosomal recessive disorder, both parents must be carriers of the defective gene and both must pass on the defect to the child in order for the child to be affected. If both parents carry the defective gene responsible for causing LMBBS, they have a 1 in 4 chance of having a child with the syndrome. In 1993, the gene responsible for LMBBS was located on chromosome 16q21 (type 2). Shortly thereafter, another gene on chromosome 11q13 (type 1) was identified. Since then, two others were found on chromosomes 3p12 (type 3) and 15q22 (type 4). The most common form of LMBBS is type 1 and the most rare form is type 3. It is expected, however, that another gene that causes the syndrome also exists because there are identified cases that have none of these four defects. The occurrence rate varies in different parts of the world. In regions such as Kuwait, the occurrence is 1 in 13,500 due to a high frequency of inter-family marriages. British studies, on the other hand, show the prevalence to be 1 in 160,000. While this syndrome is considered rare, it is suspected that there is a major problem with under-diagnosis. Features and Characteristics Following is a list of characteristics that have been seen in children with LMBBS. Not all children will exhibit all of these features:
Healthfinder® - Laurence-Moon-Biedl Syndrome home health library all topics L laurencemoon-Biedl syndrome. displaying 11 of 1 document see categories and related topics, http://www.healthfinder.gov/Scripts/SearchContext.asp?topic=485
Laurence-Moon-Bardet-Biedl Syndrome Network Home Page Welcome to the laurencemoon-Bardet-Biedl Network Home Page. The purpose of this page is to raise public awareness of the laurence-moon Bardet-Biedl syndrome. http://mlmorris.com/lmbbs/
FORMULAIRE INSCRIPTION RECHERCHE WWW.LACHAINETTE.COM Translate this page Contacts Maladie sélectionnée laurence-moon, syndrome de Id, Prenom, Pays, Web. 795, philippe, FRANCE, http://www.lachainette.com/ContactsPathologie.php?Action=contacter&Id=356
Laurence-Moon-Biedl Syndrome - General Practice Notebook laurencemoon-Biedl syndrome. laurence-moon-Biedl syndrome is an autosomal recessive condition characterised by mental retardation; http://www.gpnotebook.co.uk/cache/-1898971129.htm
Syndrome Of Bardet-Biedl syndrome, can not be considered as such since in BardetBiedl s syndrome does not exist paraplegia (paralysis) and in laurence-moon s syndrome neither the http://www.obesidad.net/english2002/disorder9.shtml
Extractions: Recommend this site to a friend or relative who may find it helpful BARDET-BIEDL'S SYNDROME Bardet-Biedl's syndrome is a hereditary disease that affects many parts of the body. Obesity, the pygmentary retinitis (night blindness and the progressive loss of the peripheral vision), the mental delay, the hypogonadism, the renal damage and the polydactylia (fingers extra in the feet), define the characteristics of Bardet-Biedl's syndrome. INHERITANCE Two forms have been identified: Bardet-Biedl's syndrome 1, which does not have relation with the chromosome 16. Bardet-Biedl's syndrome 2, that has relation with the chromosome 16. Bardet-Biedl's syndrome is transmitted genetically across the families by inheritance autosomic recessive. In this type of inheritance, both parents are called carriers, they have a gene of the syndrome paired with a normal gene. Each of his children have at the time a possibility of 25% (or an opportunity in four) of inheriting both Bardet-Biedl's genes (one of every father) necessary to cause this disease. The carriers are healthy because only they have a copy of the gene. At this moment, it is impossible to determine if someone is a carrier of Bardet-Biedl's syndrome but until the birth of an affected child.
Online And Offline Support: L Laurence Moon Bardet Biedl syndrome (United States). People served laurencemoon-Biedl syndrome Network (United States). People served http://www.widesmiles.org/support/l.html
Extractions: L Langer-Giedion Syndrome Langer-Giedion Syndrome Association Louise Kinross Email address: lgsa@geocities.com Website: http://www.geocities.com/HotSprings/9308/ 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) 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
BARDET-BIEDL (LAURENCE-MOON-BARDET-BIEDL) SYNDROME Features Listed For BARDETBIEDL (laurence-moon-BARDET-BIEDL) syndrome. McKusick 209900. Abnormal liver (including function); Biliary http://www.hgmp.mrc.ac.uk/dhmhd-bin/hum-look-up?154
Orthoguide.com Laurence-Moon-Biedl Syndrome Search results for laurencemoon-Biedl syndrome . NO MATCHES FOUND-Please select a different keyword or category OR. Search AltaVista http://www.mymedline.com/ortho/Laurence-Moon-Biedl_Syndrome.php3
LMBB Society | About Us And Our Publications The laurencemoon-Bardet-Biedl Society is the only registered charity supporting people with laurence-moon-Bardet-Biedl syndrome, their families and carers. http://www.lmbbs.org.uk/about.htm
Extractions: Laurence Moon Bardet Biedl Society Registered Charity Number 1027384 The Laurence-Moon-Bardet-Biedl Society is the only registered charity supporting people with Laurence-Moon-Bardet-Biedl Syndrome, their families and carers. It provides information for them and the medical and other professions. All members of the Management Committee are volunteers. The Society produces newsletters, holds an annual family conference, and co-operates with research relevant to the Syndrome. Through the printing and distribution of information booklets, the Society has raised awareness of the Syndrome and, as a direct result, membership has more than trebled in the past two years. The Society now supports over 200 families and communicates with over 250 professionals involved in their care. By putting you in touch with other families who are facing similar problems. By passing on advice which has helped us in the day to day management of our children. By sending information which will help professionals in medical and educational fields to understand more about our special children. (see below) By advising about benefits to which you may be entitled (U.K. and Eire)
