Laurence-moon, Syndrome : Sites Et Documents Francophones Translate this page laurence-moon, syndrome. Menu général CISMeF. Arborescence(s) du thesaurus MeSHcontenant le mot-clé laurence-moon, syndrome Laurence Moon syndrome http://www.chu-rouen.fr/ssf/pathol/laurencemoonsyndrome.html
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:
Special Child: Disorder Zone Archives syndrome Fragile X syndrome Hydrocephalus Kabuki syndrome Klinefelter syndromeLandauKleffner syndrome, laurence-moon-Bardet-Biedl syndrome Lennox-Gastaut http://www.specialchild.com/disorder.html
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Database Search Results Database Search Results. Searched keywords for laurencemoon-Biedlsyndrome. laurence-moon-Biedl syndrome Network. NHIC Home Page http://www.health.gov/nhic/NHICScripts/Hitlist.cfm?Keyword=Laurence-Moon-Biedl S
Laurence-Moon-Bardet-Biedl Syndrome. Clinical, Title laurencemoon-Bardet-Biedl syndrome. 3. Riise R, Tornqvist K, Lofterød B,Heiberg A, Knudtzon J. Growth in the laurence-moon-Bardet-Biedl syndrome. http://eprints.lub.lu.se/archive/00009672/
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
Extractions: Search RNIB site for: ARDEN, G. What is retinitis pigmentosa? Talking Sense , Winter 1986, BAIO, E. Young people with R.P. (retinitis pigmentosa): a short talk delivered at the branch chairmen's meeting of the British Retinitis Pigmentosa Society held in London on 24th April 1983. Dublin: RP Ireland - Fighting Blindness, 1983. Unpaged (18pp.). BARRON, S. Psychological problems of retinitis pigmentosa: [paper] presented at the third annual workshop of the National Retinitis Pigmentosa Foundation, New York, October 4, 1975. Dover, DE: The Author, 1975. 15pp. BAUSERMAN, C.M. Orientation and mobility for the retinitis pigmentosa student. Roanoke, VA: The Author, 1980. 18pp. Typescript. BERGSMA, D.R. Ophthalmologic aspects of Usher's syndrome. Baltimore, MD: National Retinitis Pigmentosa Foundation, n.d. [c.1973]. 9pp. BERSON, E.L. Retinitis pigmentosa: early diagnosis and some aspects of prevention.
Laurence-Moon-Biedl Syndrome - General Practice Notebook Notebook. laurencemoon-Biedl syndrome. laurence-moon-Biedl syndromeis an autosomal recessive condition characterised by mental http://www.gpnotebook.co.uk/cache/-1898971129.htm
Extractions: JD Harnett, JS Green, BC Cramer, G Johnson, L Chafe, P McManamon, NR Farid, W Pryse-Phillips, and PS Parfrey Table of Contents Find Similar Articles in the Journal Notify a friend about this article Add to Personal Archive ... Related Articles in Medline Articles in Medline by Author: Harnett, J. D. Parfrey, P. S. Medline Citation Abstract This article has been cited by other articles: Riise, R., Tornqvist, K., Wright, A. F., Mykytyn, K., Sheffield, V. C. (2002). The Phenotype in Norwegian Patients With Bardet-Biedl Syndrome With Mutations in the BBS4 Gene. Arch Ophthalmol [Abstract] [Full Text] WARBURG, M., RIISE, R., BEALES, P., FLINTER, F. (2000). Bardet-Biedl and Cohen syndromes: differential diagnostic criteria. J. Med. Genet. [Full Text] Beales, P. L., Reid, H. A.S., Griffiths, M. H., Maher, E. R., Flinter, F. A., Woolf, A. S. (2000). Renal cancer and malformations in relatives of patients with Bardet-Biedl syndrome. Nephrol Dial Transplant [Abstract] [Full Text] David, A., Bitoun, P., Lacombe, D., Lambert, J.-C., Nivelon, A., Vigneron, J., Verloes, A. (1999). Hydrometrocolpos and polydactyly: a common neonatal presentation of Bardet-Biedl and McKusick-Kaufman syndromes.
Extractions: JS Green, PS Parfrey, JD Harnett, NR Farid, BC Cramer, G Johnson, O Heath, PJ McManamon, E O'Leary, and W Pryse-Phillips Table of Contents Find Similar Articles in the Journal Notify a friend about this article Add to Personal Archive ... Related Articles in Medline Articles in Medline by Author: Green, J. S. Pryse-Phillips, W. Medline Citation Abstract This article has been cited by other articles: Barnett, S, Reilly, S, Carr, L, Ojo, I, Beales, P L, Charman, T (2002). Behavioural phenotype of Bardet-Biedl syndrome. J. Med. Genet. [Full Text] Magen, D., Ish-Shalom, N., Lorber, A., Khoury, A., Zelikovic, I. (2002). An infant with polydactyly and renal anomalies: early diagnosis of a rare syndrome. Nephrol Dial Transplant [Full Text] Katsanis, N., Lupski, J. R., Beales, P. L. (2001). Exploring the molecular basis of Bardet-Biedl syndrome.
Laurence-Moon-Bardet-Beidel What is laurencemoon-Bardet-Biedl syndrome? Retinitis Pigmentosa (Including laurence-moon-Bardet-Biedlsyndrome) a select bibliography for the layman . http://www.nhbvi.com/internet/Eye/lmbb.html
Extractions: Search: What is Laurence-Moon-Bardet-Biedl Syndrome? Information from Contact a Family Information from Guy's Hospital, London Information from the OMIM database Laurence-Moon-Bardet-Biedl Network Laurence-Moon-Bardet-Biedl Society (UK) "Retinitis Pigmentosa (Including Laurence-Moon-Bardet-Biedl Syndrome): a select bibliography for the layman" Birth Disorder Information Directory Family Village LowVision.org Sindrome di Laurence-Moon-Bardet-Biedl
Orthoguide.com Laurence-Moon-Biedl Syndrome Search results for laurencemoon-Biedl syndrome . NO MATCHES FOUND-Pleaseselect a different keyword or category OR Search AltaVista http://www.orthoguide.com/ortho/Laurence-Moon-Biedl_Syndrome.php3
Lund University, Doctoral Dissertation Title and subtitle laurencemoon-Bardet-Biedl syndrome. Keywords laurence-moon-Bardet-Biedlsyndrome, Alström syndrome, Bardet-Biedl syndrome. http://www.lub.lu.se/cgi-bin/show_diss.pl?db=global&fname=med_81.html
