21. Entrez PubMed Click here to read The SmithLemli-opitz syndrome. The Smith-Lemli-opitz syndrome(SLOS) is one of the archetypical multiple congenital malformation syndromes. http://www.biomedcentral.com/pubmed/10807690

Entrez PubMed Nucleotide Protein ... Books Search PubMed Protein Nucleotide Structure Genome Books CancerChromosomes 3D Domains Domains Gene GEO GEO DataSets HomoloGene Journals MeSH NCBI Web Site OMIM PMC PopSet SNP Taxonomy UniGene UniSTS for Limits Preview/Index History Clipboard ... Text Version Entrez PubMed Overview FAQ Tutorial New/Noteworthy ... E-Utilities PubMed Services Journals Database MeSH Database Single Citation Matcher Batch Citation Matcher ... Cubby Related Resources Order Documents NLM Gateway TOXNET Consumer Health ... PubMed Central Summary Brief Abstract Citation ASN.1 MEDLINE XML UI List LinkOut Related Articles Cited in Books CancerChrom Links Domain Links 3D Domain Links GEO DataSet Links Gene Links Genome Links GEO Links HomoloGene Links Nucleotide Links OMIM Links PMC Links Cited in PMC PopSet Links Protein Links SNP Links Structure Links UniSTS Links Show: Sort Author Journal Pub Date Text File Clipboard E-mail Order J Med Genet. 2000 May;37(5):321-35. Related Articles, Links The Smith-Lemli-Opitz syndrome. Kelley RI, Hennekam RC. The Johns Hopkins University, Kennedy Krieger Institute, 707 North Broadway, Baltimore, Maryland 21205, USA. The Smith-Lemli-Opitz syndrome (SLOS) is one of the archetypical multiple congenital malformation syndromes. The recent discovery of the biochemical cause of SLOS and the subsequent redefinition of SLOS as an inborn error of cholesterol metabolism have led to important new treatment possibilities for affected patients. Moreover, the recent recognition of the important role of cholesterol in vertebrate embryogenesis, especially with regard to the hedgehog embryonic signalling pathway and its effects on the expression of homeobox genes, has provided an explanation for the abnormal morphogenesis in the syndrome. The well known role of cholesterol in the formation of steroid hormones has also provided a possible explanation for the abnormal behavioural characteristics of SLOS.

22. Smith Lemli Opitz Syndrome Smith Lemli opitz syndrome Important It is possible that the main title ofthe report Smith Lemli opitz syndrome is not the name you expected. http://my.webmd.com/hw/raising_a_family/nord292.asp

var guid_source = ""; var guid_source_id = ""; //unused var encodedurl = ""; WebMD Today Home WebMD News Center Member Services WebMD University My WebMD Find a Physician Medical Info Check Symptoms Medical Library Quizzes, Calculators Clinical Trials ... Women, Men, Lifestyle Who We Are About WebMD Site Map Health Topics Symptoms ... For a Complete Report Smith Lemli Opitz Syndrome Important It is possible that the main title of the report Smith Lemli Opitz Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Synonyms RSH Syndrome Smith-Opitz-Inborn Syndrome Disorder Subdivisions None General Discussion Smith-Lemli-Opitz syndrome is a hereditary developmental disorder. It is characterized by nostrils that tilt forward (anteverted nares), drooping eyelids, webbing between the second and third toes, male genital abnormalities, mental retardation, and small stature. Resources Smith Lemli-Opitz/RSH Advocacy and Exchange 2650 Valley Forge Drive Boothwyn, PA 19061

23. Opitz Syndrome opitz syndrome Opitz G/BBB Family Network Support, encouragement, education, and sharingof successes and ideas for families affected by OpitzG/BBB syndrome. http://my.webmd.com/hw/health_guide_atoz/shc29opi.asp

var guid_source = ""; var guid_source_id = ""; //unused var encodedurl = ""; WebMD Today Home WebMD News Center Member Services WebMD University My WebMD Find a Physician Medical Info Check Symptoms Medical Library Quizzes, Calculators Clinical Trials ... Women, Men, Lifestyle Who We Are About WebMD Site Map You are in Medical Library Choose a Topic Our Content Sources Ask A Question Clinical Trials Health Guide A-Z Health Topics Symptoms Medical Tests Medications ... Opitz G/BBB Family Network Opitz Syndrome Opitz G/BBB Family Network International. Founded 1994. Support, encouragement, education, and sharing of successes and ideas for families affected by Opitz-G/BBB syndrome. Maintains database of members, literature, information, e-group, phone support, and newsletter. Referrals to other families. Family conferences. WRITE: Opitz Family Network P.O. Box 515 Grand Lake, CO 80447 CALL: 970-627-3466 FAX: 970-627-3476 (eve/weekends) E-MAIL: darcee@cubs.egsd.k12.co.us WEBSITE: http://www.opitznet.org VERIFIED: 2/19/2003 The above information is based upon information available through the "verified" date at the end of each listing. Since American Self-Help Group Clearinghouse's resources are limited; it is not possible to keep every entry in American Self-Help Group Clearinghouse database completely current and accurate. Please check with the organizations listed for the most current information. For additional information and assistance about self-help groups, please contact the American Self-Help Group Clearinghouse in Cedar Knolls, New Jersey, by email at: info@selfhelpgroups.org

24. Smith Lemli Opitz Syndrome SmithLemli-opitz syndrome is a hereditary developmental disorder. NationalOrganization for Rare Disorders, Inc. Smith Lemli opitz syndrome. http://www.bchealthguide.org/kbase/nord/nord292.htm

document.write(''); var hwPrint=1; var hwDocHWID="nord292"; var hwDocTitle="Smith Lemli Opitz Syndrome"; var hwRank="1"; var hwSectionHWID="nord292"; var hwSectionTitle=""; var hwSource="cn6.0"; var hwProdCfgSerNo="wsh_html_031_s"; var hwDocType="NORD"; National Organization for Rare Disorders, Inc. Smith Lemli Opitz Syndrome Important It is possible that the main title of the report is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Synonyms RSH Syndrome Smith-Opitz-Inborn Syndrome Disorder Subdivisions None Related Disorders List Information on the following diseases can be found in the Related Disorders section of this report: None General Discussion Smith-Lemli-Opitz syndrome is a hereditary developmental disorder. It is characterized by nostrils that tilt forward (anteverted nares), drooping eyelids, webbing between the second and third toes, male genital abnormalities, mental retardation, and small stature. Symptoms Onset of Smith-Lemli-Opitz syndrome occurs before birth. Symptoms of the disorder include:

25. Opitz Syndrome Founded 1994. Support, encouragement, education, and sharing of successesand ideas for families affected by OpitzG/BBB syndrome. opitz syndrome. http://www.bchealthguide.org/kbase/shc/shc29opi.htm

document.write(''); var hwPrint=1; var hwDocHWID="shc29opi"; var hwDocTitle="Opitz Syndrome"; var hwRank="1"; var hwSectionHWID="shc29opi"; var hwSectionTitle=""; var hwSource="cn6.0"; var hwProdCfgSerNo="wsh_html_031_s"; var hwDocType="SHC"; Self Help Clearinghouse Opitz Syndrome Opitz G/BBB Family Network International. Founded 1994. Support, encouragement, education, and sharing of successes and ideas for families affected by Opitz-G/BBB syndrome. Maintains database of members, literature, information, e-group, phone support, and newsletter. Referrals to other families. Family conferences. WRITE: Opitz Family Network P.O. Box 515 Grand Lake, CO 80447 CALL: 970-627-3466 FAX: 970-627-3476 (eve/weekends) E-MAIL: darcee@cubs.egsd.k12.co.us WEBSITE: http://www.opitznet.org VERIFIED: 2/19/2003 The above information is based upon information available through the "verified" date at the end of each listing. Since American Self-Help Group Clearinghouse's resources are limited; it is not possible to keep every entry in the American Self-Help Group Clearinghouse database completely current and accurate. Please check with the organizations listed for the most current information. For additional information and assistance about self-help groups, please contact the American Self-Help Group Clearinghouse in Cedar Knolls, New Jersey, by email at: info@selfhelpgroups.org

26. SMITH-LEMLI-OPITZ SYNDROME TYPE I Features Listed For SMITHLEMLI-opitz syndrome TYPE I. McKusick 270400.Abnormal liver (including function); Absent or hypoplastic http://www.hgmp.mrc.ac.uk/dhmhd-bin/hum-look-up?1604

27. SMITH-LEMLI-OPITZ SYNDROME TYPE I Features Listed For SMITHLEMLI-opitz syndrome TYPE II (SEVERE LETHALFORM). McKusick 268670. 46, XY with Mullerian structures; Absent http://www.hgmp.mrc.ac.uk/dhmhd-bin/hum-look-up?1605

28. Special Child: Disorder Zone Archives - Smith-Lemli-Opitz Syndrome SmithLemli-opitz syndrome. Chase Woodward. Abigail was born on February 22, 1999and within days was diagnosed with Smith-Lemli-opitz syndrome, or SLOS. http://www.specialchild.com/archives/dz-030.html

Disorder Zone Archives Smith-Lemli-Opitz Syndrome Chase Woodward Abigail Roberts Introduction Smith-Lemli-Opitz syndrome (SLOS) is a metabolic disorder characterized by psychomotor and growth retardation, cleft palate, polydactyly, syndactyly, and a distinctive craniofacial appearance. SLOS is an inherited autosomal recessive disorder, which means that those with SLOS have inherited the defective gene from both parents. Couples who have one affected child have a 25% risk of having a child with SLOS in each pregnancy. For those individuals who already have a child with SLOS, prenatal testing is available for subsequent pregnancies. It is now estimated that SLOS occurs in 1 out of every 10,000 to 20,000 live births. This rate may be underestimated, however, because the recognition of SLOS in mildly affected patients, where only a few abnormalities are found, can be difficult. In addition, some individuals may have separate malformations that disrupt the diagnostically important facial characteristics. It does appear, however, that there is a higher frequency of SLOS in individuals of northern European ancestry and a lower frequency in people of Asian or African background. Features and Characteristics The following characteristics have been seen in more than 50% of patients: Microcephaly Blepharoptosis (drooping of the upper eyelids) Cleft palate Postnatal growth retardation Syndactyly of toes (webbing between toes) Mental retardation Hypospadias (developmental anomaly involving the urethra)

29. Genetic Disorders, Opitz Syndrome Submit Your Site to the opitz syndrome category. Sponsored opitz syndromeSites. Submit Your Site to the opitz syndrome category. Sponsored Results. http://www.iseekhealth.com/opitz_syndrome-1605.php

Home About Us Contact Submit Your Site Search : Home Health Conditions and Diseases Genetic Disorders ... Opitz Syndrome More Opitz Syndrome Categories: Submit Your Site to the Opitz Syndrome category Sponsored Opitz Syndrome Sites Cystic Fibrosis Book Store At WellnessBooks.com Comprehensive source to books on Cystic Fibrosis. Includes community boards and chat, book reviews and online ordering. Buy Genetic Disorders Products We link to merchants which offer Genetic Disorders products for sale. Online Doctors - Ask Us Now! Kasamba's variety of health experts- including Doctors, Specialists, Herbalists, Nurses and more- offer real help for affordable consultation fees- live via chat or e-mail! Buy Genetics Books At Amazon.com and Save! Would you like to save on Genetics Books at Amazon and other stores? Compare prices at BookSellersNow.com! Our site continually proves that online shopping can be fun! Canadian Opitz Family Network - A description of Opitz G/BBB Syndrome. Family Village - Opitz G Syndrome information and contact links.

30. Genetic Disorders, Smith Lemli Opitz Syndrome More Smith Lemli opitz syndrome Categories » Submit Your Site to the SmithLemli opitz syndrome category. Sponsored Smith Lemli opitz syndrome Sites. http://www.iseekhealth.com/smith_lemli_opitz_syndrome-1622.php

Home About Us Contact Submit Your Site Search : Home Health Conditions and Diseases Genetic Disorders ... Smith Lemli Opitz Syndrome More Smith Lemli Opitz Syndrome Categories: Submit Your Site to the Smith Lemli Opitz Syndrome category Sponsored Smith Lemli Opitz Syndrome Sites Cystic Fibrosis Book Store At WellnessBooks.com Comprehensive source to books on Cystic Fibrosis. Includes community boards and chat, book reviews and online ordering. Buy Genetic Disorders Products We link to merchants which offer Genetic Disorders products for sale. Online Doctors - Ask Us Now! Kasamba's variety of health experts- including Doctors, Specialists, Herbalists, Nurses and more- offer real help for affordable consultation fees- live via chat or e-mail! Buy Genetics Books At Amazon.com and Save! Would you like to save on Genetics Books at Amazon and other stores? Compare prices at BookSellersNow.com! Our site continually proves that online shopping can be fun! Emergency Medicine - An extensive article about Smith-Lemli-Opitz syndrome, a multiple congenital anomalies/mental retardation syndrome caused by a defect in cholesterol synthesis. NORD: Smith Lemli Opitz Syndrome - Offers a brief description, the synonyms and further resources.

31. Disease Directory : Genetic Disorders : Opitz Syndrome Diseases Genetic Disorders opitz syndrome. Clinical Trial Study ofSmithLemli-opitz syndrome - Study of Smith-Lemli-opitz syndrome. http://www.diseasedirectory.net/Genetic_Disorders/Opitz_Syndrome/default.aspx

Wednesday, June 02, 2004 Genetic Disorders Aarskog Syndrome Aase Syndrome Ablepharon-Macrostomia Syndrome ... Genetic Disorders : Opitz Syndrome A-Z Deafblindness - An in depth article by Mary Guest, Head of Usher Services at Sense, about Usher syndrome. Includes detailed description of what it is, the symptoms, genetics, transmission, the problems associated with it and what can be done. Canadian Opitz Family Network - A description of Opitz G/BBB Syndrome. Clinical Trial: Study of Smith-Lemli-Opitz Syndrome - Study of Smith-Lemli-Opitz Syndrome. Official Title: Clinical and Basic Investigations into Smith-Lemli-Opitz Syndrome. Further Study Details: DHCR7 and Smith–Lemli–Opitz syndrome - CLINICALLY IMPORTANT GENES DHCR7 and Smith–Lemli–Opitz syndrome Clin Invest Med 2001;24(6):311-7. © 2001 Canadian Medical Association Medical subject Family Village - Opitz G Syndrome information and contact links. Kennedy Krieger Institute: Smith-Lemli-Opitz syndrome - KKI Logo. Print this page. Smith-Lemli-Opitz syndrome. SLOS is a genetic disorder that affects the development of children both before and after birth. National Library of Medicine: OS - Opitz syndrome, the synonyms, a summary and a list of major features.

32. Disease Directory : Genetic Disorders : Smith Lemli Opitz Syndrome Diseases Genetic Disorders Smith Lemli opitz syndrome. Behavioral phenotype ofRSH/SmithLemli-opitz syndrome. Print this page. Smith-Lemli-opitz syndrome. http://www.diseasedirectory.net/Genetic_Disorders/Smith_Lemli_Opitz_Syndrome/def

Wednesday, June 02, 2004 Genetic Disorders Aarskog Syndrome Aase Syndrome Ablepharon-Macrostomia Syndrome ... Genetic Disorders : Smith Lemli Opitz Syndrome Behavioral phenotype of RSH/Smith-Lemli-Opitz syndrome. - Click here to read Behavioral phenotype of RSH/Smith-Lemli-Opitz syndrome. Smith-Lemli-Opitz syndrome is a metabolic disorder that is associated with autism. Emergency Medicine - An extensive article about Smith-Lemli-Opitz syndrome, a multiple congenital anomalies/mental retardation syndrome caused by a defect in cholesterol synthesis. FBR Smith-Lemli-Opitz Syndrome - General Overview - Smith-Lemli-Opitz SyndromeResearchers are focusing on Smith-Lemli-Opitz (SLO) syndrome, a serious inherited disorder occurring once in 20,000 births. Kennedy Krieger Institute: Smith-Lemli-Opitz syndrome - KKI Logo. Print this page. Smith-Lemli-Opitz syndrome. SLOS is a genetic disorder that affects the development of children both before and after birth. MedWebPlus: Subject: Hereditary Diseases: Smith-Lemli-Opitz ... - Web Sites: Entry. GO. GeneClinics: Medical Genetics Knowledge Base Smith-Lemli-Opitz Syndrome Authors: TL Kurtzman; C Cunniff. GO. Online References for Smith-Lemli-Opitz syndrome with the MeSH term ...

33. Opitz G,Opitz, Syndrome, Lucas, Lucas Towstego, Towstego, G Syndrome, Bbb Syndro Synonyms It is possible that opitz syndrome may not be the name that you expected. OpitzSyndrome is a genetic disorder that may be evident at birth. http://www.apollos.net/arena/opitz/nord_description.html

Opitz G/BBB Family Connection (Canada) 43 Swallow Street, Kitimat, British Columbia V8C 1K6 Phone: 250-632-7026 Fax:250-639-9062 E-Mail NORD Description of Opitz G/BBB Syndrome Synonyms It is possible that Opitz Syndrome may not be the name that you expected. Your physician may have given you another name for this disease. Please check the synonyms listed below to find other names for this specific disorder. BBBG Syndrome Hypertelorism with Esophageal Abnormalities and Hypospadias Hypertelorism-Hypospadias Syndrome Hypospadias-Dysphagia Syndrome Opitz BBB Syndrome Opitz BBB/G Compound Syndrome Opitz BBBG Syndrome Opitz G Syndrome Opitz Hypertelorism-Hypospadias Syndrome Opitz Oculogenitolaryngeal Syndrome Opitz-Frias Syndrome Telecanthus-Hypospadias Syndrome Disorder Subdivisions: G Syndrome BBB Syndrome (Opitz) Abstract (General Discussion) The information contained in the Rare Disease Database (RDB) is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you order the full text version of this report from NORD, you can contact the agencies listed in the Resources section for more detailed information and avenues to support. In addition, your personal physician may be able to provide details specific to your case. Opitz Syndrome was originally categorized as two distinct disorders: i.e., Opitz G and Opitz BBB Syndromes. Yet many investigators have since determined that the disorders represent the same clinical entity with different modes of genetic transmission. The form of the disorder previously designated as Opitz BBB Syndrome is transmitted as an X-linked trait. This X-linked disorder appears to be caused by changes (mutations) of a gene, known as MID1 (for "midline-1"), that is located on the short arm (p) of chromosome X (Xp22). The form originally classified as Opitz G Syndrome is inherited as an autosomal dominant trait. It is thought to result from deletions of genetic material from the long arm (q) of chromosome 22 (22q11.2).

34. TheFetus.net - Prenatal Ultrasound Findings Of Smith-Lemli-Opitz Syndrome-Sandra 200003-15-17 Smith-Lemli-opitz syndrome © Silva www.thefetus.net Smith-Lemli-Opitzsyndrome. 0.005 mg/ml. Smith-Lemli-opitz syndrome. 18 + 3 mg/ml. http://www.thefetus.net/page.php?id=442

35. MedWebPlus Subject Smith-Lemli-Opitz Syndrome http://medwebplus.com/subject/Smith-Lemli-Opitz_Syndrome

Main About MWP Contribute to MWP Contact Us A service of Flexis, Inc. Welcome to MedWebPlus 2.3! A free service to help you find health sciences information quickly and easily. Smith-Lemli-Opitz Syndrome Related Terms: Angelman Syndrome Down Syndrome Mitochondrial Myopathies Prader-Willi Syndrome Focussed Subsets: Enzymology Genetics Organizations Genetic Counseling ... therapy Web Sites: Entry GO GeneClinics: Medical Genetics Knowledge Base Smith-Lemli-Opitz Syndrome Authors: TL Kurtzman; C Cunniff GO Online Mendelian Inheritance in Man SMITH-LEMLI-OPITZ SYNDROME, TYPE I (#270400) GO Opitz-G/BBB Family Network GO ... Smith-Lemli-Opitz Syndrome Network (SLOS) Flexis, Inc. Privacy statement Powered by y-Base

36. OPITZ SYNDROME: Contact A Family - For Families With Disabled Children: Informat printer friendly, opitz syndrome, opitz syndrome; G syndrome; HypertelorismHypospadiassyndrome; Opitz-Frias syndrome; Opitz G/BBB syndrome. http://www.cafamily.org.uk/Direct/o15.html

printer friendly OPITZ SYNDROME home more about us in your area conditions information ... how you can help search this site Did you find this page helpful? yes no Opitz syndrome; G syndrome; Hypertelorism-Hypospadias syndrome; Opitz-Frias syndrome; Opitz G/BBB syndrome Genetic knowledge has advanced since Professor John Opitz and his colleagues reported the condition in the 1970s. Professor Opitz is an eminent North American geneticist who did not favour the old system of naming syndromes after the doctor who first reports the condition. He named several conditions by representing the initials of the surnames of the first presenting families. However, a huge increase in the number of newly reported syndromes was one reason this system fell out of favour. The so-called type I and type II Opitz G/BBB syndromes appear the same but they may arise from different faults in one gene, or even from faults in quite different genes. This phenomenon is termed genetic heterogeneity and it is important for families because it complicates genetic risk prediction and makes gene testing more difficult. Probably, the autosomal dominant variety of Opitz G/BBB is commonest and in some families the gene fault or mutation is located on chromosome 22. In a few cases only, a chromosome 22q11-13 deletion has been diagnosed by a special (FISH) chromosome test.

37. SMITH-LEMLI-OPITZ SYNDROME: Contact A Family - For Families With Disabled Childr printer friendly, SMITHLEMLI-opitz syndrome, Smith-Lemli-opitz syndrome (SLOS)is a multiple congenital abnormality syndrome first described in 1964. http://www.cafamily.org.uk/Direct/s32.html

printer friendly SMITH-LEMLI-OPITZ SYNDROME home more about us in your area conditions information ... how you can help search this site Did you find this page helpful? yes no Smith-Lemli-Opitz syndrome (SLOS) is a multiple congenital abnormality syndrome first described in 1964. Thirty years later, SLOS became the first such syndrome be identified as an 'inborn error of metabolism', in this case due to deficiency of the enzyme called 7-dehydrocholesterol reductase. This enzyme normally drives the conversion of the chemical called 7-dehydrocholesterol to cholesterol. Therefore, deficiency of the enzyme leads to increased 7-dehydrocholesterol level and simultaneously restricts the body's ability to produce cholesterol. Although increased cholesterol in the blood leads to heart disease in adult life, cholesterol is also an essential chemical that governs normal development of the fetus during pregnancy and permits optimal growth and brain development after birth. Congenital abnormalities that are present in children with SLOS include microcephaly cleft palate , abnormalities of the fingers and toes (polydactyly and syndactyly) and abnormalities in development of the heart kidneys liver , and lungs . Not all these organs are affected in each case. Underdevelopment of external genitalia occurs in males. Some infants are very severely affected and, in the past, the most severe form of the condition was called SLOS type II. Miscarriage, stillbirth or death in the first weeks of life may occur in such severe cases. In surviving infants, slow growth and poor weight gain is the rule and feeding via a gastrostomy may be required.

38. Smith-Lemli-Opitz, Syndrome : Sites Et Documents Francophones Translate this page Smith-Lemli-Opitz, syndrome. Arborescence(s) du thesaurus MeSH contenant lemot-clé Smith-Lemli-Opitz, syndrome Smith-Lemli-opitz syndrome http://www.chu-rouen.fr/ssf/pathol/smithlemliopitzsyndrome.html

Smith-Lemli-Opitz, syndrome Menu général CISMeF Synonyme(s) CISMeF 7-déhydrocholestérol réductase, déficit en. Synonyme(s) MeSH RSH, syndrome ; Syndrome RSH ; Syndrome Smith-Lemli-Optiz Arborescence(s) Smith-Lemli-Opitz, syndrome Smith-Lemli-Opitz syndrome maladies et malformations congénitales, héréditaires et néonatales métabolisme et nutrition, maladies 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 : Qualificatifs : diagnostic patient Smith-Lemli-Opitz, syndrome de - Synonyme(s) : 7-déhydrocholestérol réductase, déficit en [Par Dr Wolf C. Site éditeur Orphanet base de données sur les maladies rares et les médicaments orphelins. Direction Générale de la Santé / INSERM ; informations sur la pathologie, signes de la maladie, types de consultation adaptées, laboratoires de diagnostic, projets de recherche en cours, associations de patients ; pays : France ; langue : français ; format : html ; accès : gratuit ; non parrainé ; daté de : 2002 ; visité le : 22/08/2003]. mots clés : déhydrocholestérols déficit maladies rares signes et symptômes ... Smith-Lemli-Opitz, syndrome

39. "Opitz Syndrome" "Opitz GBBB Syndrome" G/BBB The Opitz G/BBB Syndrome Conference. Website developed by Jan Wharton, motherof a child with opitz syndrome and president Opitz G/BBB Family Network. http://www.opitznet.org/

opitz syndrome "Opitz Syndrome" Opitz GBBB syndrome" Optiz syndrome" "Opitz G syndrome" "Opitz Frias Syndrome" opitz g syndrome opitz syndreom opitz g/bbb syndrome bbb syndrome opitz gbbb syndreom g syndrome opitz gbbb syndreome opitz syndrome opitz syndrome Opitz Syndrome Opitz G/BB This site developed by Jan Wharton B Topics Opitz G/BBB Syndrome Research Opitz G/BBB Family Network Conferences ... Other "Opitz" syndromes Logo was designed for our network specifically and is used under license of Karen G. Frandsen. P.O. Box 515, Grand Lake, CO 80447 USA http://www.opitznet.org This is NOT the website of Dr. Opitz, who discovered the syndrome This Page is available in and Italiano Free Online Translator pilartanoira@fibertel.com.ar para mas informacion What is the Opitz G/BBB Family Network? We are a parent-run support network for all individuals and families of children who have Opitz-G/BBB syndrome. The Opitz G/BBB Family Network was established in June of 1994 with the cooperation of Dr. John M. Opitz. We now have contact with 272 families from Argentina, Australia, Brazil, Canada, Denmark, England, Holland, Hungary, Ireland, Israel, Italy, Luxemburg, Mexico, New Zealand, Northern Ireland, Norway, Scotland, Slovakia, Spain, Switzerland, Wales, and the United States. We are listed with many international, national, state and local agencies.

40. Conditions And Diseases - Smith Lemli Opitz Syndrome Top Links Smith Lemli opitz syndrome Web Site Links. Smith Lemli opitz syndrome Advocacy and exchange. Includes a detailed description, diagnosis http://www.disease-resources.com/Top_Health_Conditions_and_Diseases_Genetic_Diso

Sub Categories Related Healthcare Subjects Disabilities Environmental Health Fitness Health Insurance ... Men's Health Smith Lemli Opitz Syndrome Web Site Links Smith Lemli Opitz Syndrome Advocacy and exchange. Includes a detailed description, diagnosis, the natural history, biochemistry, genetics, treatment and contact details. NORD - Smith Lemli Opitz Syndrome Offers a brief description, the synonyms and further resources. Emergency Medicine An extensive article about Smith-Lemli-Opitz syndrome, a multiple congenital anomalies/mental retardation syndrome caused by a defect in cholesterol synthesis. Other Useful Health Web Links National Institutes of Health (NIH) US Government department in charge of medical research. AHRQ: Clinical Information Clinical information on evidence-based practice, clinical guidelines, medical effectiveness, pharmaceutical therapy, new technology, screening and preventive services, outcomes research, and the National Guideline Clearinghouse. The UK Health Technology Assessment Programme Site contains details of program's many projects and publications; an NHS national research and development initiative. U.S. Preventive Services Task Force (USPSTF)

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