21. Marfan Syndrome Fact Sheet What is marfan syndrome? marfan syndrome is an inherited disorder of stretchand weaken. What Causes marfan syndrome? It is now known http://www.marfan.ca/syndrome.htm

info@marfan.ca http://www.marfan.ca Toll Free #: 1-866-722-1722 Tel: (905) 826-3223 Fax: (905) 826-2125 What is Marfan Syndrome? Marfan Syndrome is an inherited disorder of the connective tissues which affects many organ systems, including the skeleton, lungs, eyes, heart and blood vessels. The condition, first described by Dr. Marfan in 1896, can affect both men and women of any race or ethnic origin. Connective tissue "connects", provides structural support, and determines the elasticity of the body's organs, bones, and ligaments. In Marfan Syndrome, the connective tissue in the heart, lungs, eyes and skeletal systems can stretch and weaken. What Causes Marfan Syndrome? It is now known that a single abnormal gene located on chromosome 15 and containing the coding for fibrilin , a connective tissue protein, is responsible for the syndrome. Most of the time this gene is inherited from a parent who is affected. About 30% of cases occur when the abnormal gene arises in an egg or a sperm of an unaffected parent. Each child of a Marfan sufferer has a 50-50 chance of inheriting the syndrome. Since genes carry the master plan for all human characteristics, an abnormality of one gene, such as the Marfan gene, results in a specific pattern of bodily changes and medical problems. Marfan Syndrome is inherited as an "autosomal dominant" condition. One in ten affected children are seriously affected.

22. Medical References: Marfan Syndrome marfan syndrome affects about 1 in 5000 Americans. It is one of themost common inherited disorders of connective tissue. It can http://www.marchofdimes.com/professionals/681_1216.asp

View All Chapters Find Your Local Chapter June 2, 2004 Select one Folic Acid Pregnancy Prenatal Screening Infections/Diseases Loss Concerns Newborn Information Birth Defects Polio Genetics Research Funding Perinatal Statistics Medical References Continuing Education ... Prematurity Quick Reference and Fact Sheets Marfan Syndrome Marfan syndrome is an inherited connective tissue disorder that can affect the heart, blood vessels, lungs, eyes, bones and ligaments. Symptoms of Marfan syndrome may be mild or severe, and may be present at birth or appear in childhood or in adult life. Marfan syndrome affects about 1 in 5,000 Americans. It is one of the most common of the more than 100 inherited disorders of connective tissue (material that holds tissues of the body together). The disorder affects males and females from all racial and ethnic groups. It is named for Dr. Antoine Marfan who, in 1896, described a 5-year-old patient with unusually long, slender fingers and limbs and other skeletal abnormalities. How are individuals with Marfan syndrome affected? Affected individuals often are tall, slender and loose-jointed. Arms and legs may be unusually long in proportion to the torso. Feet often are flat. The spine may be curved (scoliosis), and the breastbone may protrude or look caved in. The face may be long and narrow, with a high roof of the mouth and crowded teeth.

23. Medical References: Marfan Syndrome marfan syndrome marfan syndrome is an inherited connective tissue disorder thatcan affect the heart, blood vessels, lungs, eyes, bones and ligaments. http://www.marchofdimes.com/printableArticles/681_1216.asp

View All Chapters Find Your Local Chapter June 2, 2004 Select one Folic Acid Pregnancy Prenatal Screening Infections/Diseases Loss Concerns Newborn Information Birth Defects Polio Genetics Research Funding Perinatal Statistics Medical References Continuing Education ... Prematurity Quick Reference and Fact Sheets Marfan Syndrome Marfan syndrome is an inherited connective tissue disorder that can affect the heart, blood vessels, lungs, eyes, bones and ligaments. Symptoms of Marfan syndrome may be mild or severe, and may be present at birth or appear in childhood or in adult life. Marfan syndrome affects about 1 in 5,000 Americans. It is one of the most common of the more than 100 inherited disorders of connective tissue (material that holds tissues of the body together). The disorder affects males and females from all racial and ethnic groups. It is named for Dr. Antoine Marfan who, in 1896, described a 5-year-old patient with unusually long, slender fingers and limbs and other skeletal abnormalities. How are individuals with Marfan syndrome affected? Affected individuals often are tall, slender and loose-jointed. Arms and legs may be unusually long in proportion to the torso. Feet often are flat. The spine may be curved (scoliosis), and the breastbone may protrude or look caved in. The face may be long and narrow, with a high roof of the mouth and crowded teeth.

24. Marfan Syndrome - About Marfan Syndrome Next . marfan syndrome. Edited by Frederick A. Matsen III, MD and Gregory C.Gardner, MD Last updated June 7, 2003 About marfan syndrome. What is it? http://www.orthop.washington.edu/arthritis/types/marfan

Home About Us Clinics Physicians ... Contact Us A program of Table of contents About Marfan syndrome What is it? Incidence and risk factors Curability ... View article with questions External links National Marfan Foundation March of Dimes [Top] Marfan Syndrome Edited by Frederick A. Matsen III, M.D. and Gregory C. Gardner, M.D. Last updated June 7, 2003 About Marfan syndrome What is it? Marfan syndrome is a rare hereditary disorder that causes connective tissue to be weaker than normal. Connective tissue is the most abundant tissue in the body. It supports and protects various other tissues, is a vital component of all organs in the body, and provides strength and elasticity to blood vessels. Therefore, a disorder of connective tissue can cause a variety of abnormal conditions. For people with Marfan syndrome, weak connective tissue causes problems of the skin, muscles, ligaments, heart, eyes, blood vessels, and bones. Incidence and risk factors It is estimated that about one in 10,000 people has Marfan syndrome. This means it affects over 20,000 people in the United States alone. Early diagnosis and treatment allows most individuals to live relatively normal, fulfilling lives, and may prevent more serious problems. People who have Marfan syndrome in their family should meet with their doctors, genetic counselors, the National Marfan Foundation , and others who have Marfan syndrome to learn all they can about the disorder and how to manage it effectively.

25. Marfan Syndrome: What Is It? Your Genes, Your Health, DNA Learning Center s multimedia guide to genetic, inheriteddisorders marfan syndrome, autosomal dominant, genetic disorder. http://yourgenesyourhealth.org/marfan/whatisit.htm

Concept 1 : Children resemble their parents. Learn how Mendel worked out inheritance in pea plants. Concept 10 : Chromosomes carry genes. Find out how genes are arranged on chromosomes.

26. Health And Medical Information: Diseases And Conditions, Medical Dictionary, Pro A QuestionAnswer format page of information. http://www.medicinenet.com/Script/Main/Art.asp?li=MNI&ag=Y&ArticleKey=41

27. MedlinePlus: Marfan Syndrome marfan syndrome. Printerfriendly version, E-mail this page to a friend. SearchMEDLINE for recent research articles on • marfan syndrome. http://www.nlm.nih.gov/medlineplus/marfansyndrome.html

@import url(http://www.nlm.nih.gov/medlineplus/images/advanced.css); Skip navigation Other health topics: A B C D ... List of All Topics Marfan Syndrome Contents of this page: From the NIH General/Overviews Coping Diagnosis/Symptoms ... Organizations Search MEDLINE for recent research articles on Marfan Syndrome You may also be interested in these MedlinePlus related pages: Genetics/Birth Defects From the National Institutes of Health Questions and Answers about Marfan Syndrome (National Institute of Arthritis and Musculoskeletal and Skin Diseases) Also available in: Spanish General/Overviews Marfan Syndrome (March of Dimes Birth Defects Foundation) Also available in: Spanish Marfan Syndrome (Mayo Foundation for Medical Education and Research) Coping Physical Education and Activity Guidelines (National Marfan Foundation) Diagnosis/Symptoms About Marfan Syndrome: Diagnosis (National Marfan Foundation) Specific Conditions/Aspects Cardiac Concerns (National Marfan Foundation) Marfan Syndrome (American Heart Association) Marfan Syndrome: An Introduction to Related Disorders (National Marfan Foundation) Ocular Concerns (National Marfan Foundation) Orthopedic Concerns (National Marfan Foundation) Genetics Genetics Home Reference: Marfan syndrome (National Library of Medicine) Genes and Disease: Marfan Syndrome (National Center for Biotechnology Information) Directories Support Services: Local Contacts (National Marfan Foundation) Organizations National Institute of Arthritis and Musculoskeletal and Skin Diseases Also available in:

28. MedlinePlus Medical Encyclopedia: Marfan Syndrome marfan syndrome. Causes, incidence, and risk factors Return to top. Marfansyndrome is inherited as an autosomal dominant trait. However http://www.nlm.nih.gov/medlineplus/ency/article/000418.htm

@import url(http://www.nlm.nih.gov/medlineplus/images/advanced.css); Skip navigation Medical Encyclopedia Other encyclopedia topics: A-Ag Ah-Ap Aq-Az B-Bk ... Z Marfan syndrome Contents of this page: Illustrations Definition Causes, incidence, and risk factors Symptoms ... Prevention Illustrations Pectus excavatum Marfan's syndrome Definition Return to top Marfan syndrome is an inheritable disorder of connective tissue (which adds strength to the body's structures) that affects the skeletal system, cardiovascular system, eyes, and skin. Causes, incidence, and risk factors Return to top Marfan syndrome is inherited as an autosomal dominant trait. However, up to 30% of cases have no family history and are so called "sporadic" cases. In sporadic cases, Marfan syndrome is believed to result from a spontaneous new mutation. Marfan syndrome is caused by mutations in the gene fibrillin-1. Fibrillin-1 plays an important role as the “scaffolding” for elastic tissue in the body. Disruption of such scaffolding (by mutations in fibrillin-1) thus results in changes in elastic tissues, particularly in the aorta, eye, and skin. Mutations in fibrillin-1 also cause overgrowth of the long bones of the body, resulting in the tall stature and long limbs seen in Marfan patients. How this overgrowth happens is not well understood. Marfan syndrome causes skeletal defects typically recognized in a tall, lanky person with long limbs and spider-like fingers (arachnodactyly), chest abnormalities (pectus excavatum or pectus carinatum), curvature of the spine, and a particular set of facial features, including a highly arched palate and crowded teeth.

29. EMedicine - Marfan Syndrome : Article By Harold Chen, MD, MS, FAAP, FACMG marfan syndrome marfan syndrome is an inherited connective tissue disordertransmitted as an autosomal dominant trait. marfan syndrome. http://www.emedicine.com/PED/topic1372.htm

(advertisement) Home Specialties CME PDA ... Patient Education Articles Images CME Patient Education Advanced Search Link to this site Back to: eMedicine Specialties Pediatrics Genetics And Metabolic Disease Marfan Syndrome Last Updated: May 14, 2003 Rate this Article Email to a Colleague Synonyms and related keywords: Marfan's syndrome, Marfan disease, Marfan's disease AUTHOR INFORMATION Section 1 of 11 Author Information Introduction Clinical Differentials ... Bibliography Author: Harold Chen, MD, MS, FAAP, FACMG , Chief, Professor, Department of Pediatrics, Section of Perinatal Genetics, Louisiana State University Medical Center Harold Chen, MD, MS, FAAP, FACMG, is a member of the following medical societies: American Academy of Pediatrics American College of Medical Genetics American Medical Association American Society of Human Genetics , and Teratology Society Editor(s): James Bowman, MD , Senior Scholar of Maclean Center for Clinical Medical Ethics, Professor Emeritus, Department of Pathology, University of Chicago; Robert Konop, PharmD

30. EMedicine - Marfan Syndrome : Article By Khalid Channell, MD marfan syndrome marfan syndrome (MFS) is a spectrum disorder caused by a heritablegenetic defect of connective tissue that has an autosomal dominant mode of http://www.emedicine.com/orthoped/topic414.htm

(advertisement) Home Specialties CME PDA ... Patient Education Articles Images CME Patient Education Advanced Search Link to this site Back to: eMedicine Specialties Orthopedic Surgery Pediatrics Marfan Syndrome Last Updated: February 5, 2003 Rate this Article Email to a Colleague Synonyms and related keywords: MFS, Marfan’s syndrome, arachnodactyly, long and thin digits, dolichostenomelia, long limbs, pectus deformities, pectus excavatum, pectus carinatum, thoracolumbar scoliosis, aortic dilation, aortic regurgitation, aneurysm, mitral valve prolapse, myopia, cataracts, retinal detachment, superior lens dislocation AUTHOR INFORMATION Section 1 of 10 Author Information Introduction Indications Relevant Anatomy And Contraindications ... Bibliography Author: Khalid Channell, MD , Staff Physician, Department of General Surgery, Division of Orthopedic Surgery, King Drew Medical Center Coauthor(s): Eleby R Washington III, MD, FACS , Associate Professor, Department of Surgery, Division of Orthopedics, Charles R Drew University of Medicine and Science Editor(s): Charles T Mehlman, DO, MPH

31. The Marfan Syndrome MEDSTUDENTS-METABOLIC DISORDERS marfan syndrome is discussed in its general aspects. The discussion TeixeiraBasto. Medstudents Homepage. The marfan syndrome. Introduction. http://www.medstudents.com.br/metdis/metdis5.htm

Metabolic Disorders Medstudents' Homepage The Marfan Syndrome Introduction The Marfan syndrome is an inherited disorder of connective tissue. It is characterized by skeletal abnormalities (pectus escavatum, pectus carinatum, scoliosis, high arched palate, tall stature, long arms and long fingers -arachnodactily); ocular abnormalities (characteristic upper dislocation of lens, myopia); ligamentar laxity and cardiovascular abnormalities (aortic dilatation, mitral valve prolapse and sometimes aortic dissection). The disease is due to a mutation on the fibrillin gene. It can be inherited as a autossomal dominant trait. 60% to 70% of affected person have a positive family history. Clinical manifestations The patients may have diverse clinical manifestations. Thoracic abnormalities may progress as scoliosis during adolescence, or lead to spontaneous pneumothorax. The ocular ectopia of lens usually is in the upper direction and can lead to glaucoma and cataracts. The diagnosis usually is made based on a tall individual with long fingers resembling a spider (arachnodactily), scoliosis or kyphosis, long arms, lens dislocation and mitral valve prolapse that can evolute to mitral regurgitation or aortic regurgitation due to aortic aneurism. Sometimes a ligamentous laxity similar to Ehler Danlos syndrome is observed. The life threatening manifestation is aortic dissection that is related to the size of aortic dilatation. Aortic diameter increases with age, not exceeding the normal range until the third decade. Cardiac abnormalities are the major source of morbidity and mortality.

32. GeneReviews: Marfan Syndrome Your browser does not support HTML frames so you must view marfan syndromein a slightly less readable form. Please follow this link to do so. http://www.genetests.org/query?dz=marfan

33. Marfan Syndrome Forum Describes the author's personal experiences with this Syndrome and asks readers to share their experiences. Also include links for further research. http://hometown.aol.com/bjthaler6/myhomepage/

Main My First Home Page htmlAdWH('7002588', '234', '60'); Marfan Syndrome Forum About Me My History with Marfan Syndrome My Hobbies and Interests I would like to hear from any of you that have Marfan Syndrome and learn how you live with it-your hobbies, interests, and accomplishments. If you have Marfan Syndrome and might have had some minor or unusual medical condition that is apparently not related to Marfan Syndrome, let me know the specific area you would like me to research for you by sending me an E-mail. Just click the E-mail button at the bottom of this web page. Marfan Syndrome Forum Links Healthlink,USA Mitral Valve Prolapse Attacking Anxiety My Favorite Products page created with 1-2-3 Publish

34. Marfan Top Page the marfan syndrome 1800-8-MARFAN. About the marfan syndrome MarfanContact Info Marfan Calendar of Events Article - marfan syndrome http://www.tall.org/marfan/marfan_TOP.cfm

the Marfan Syndrome 1-800-8-MARFAN About the Marfan Syndrome Marfan Contact Info Marfan Calendar of Events Article - " Marfan Syndrome - I wonder, do I have the disorder? " by Doris Livezey Article - INFORMATION PACKET from TCI/NMF Liaisons (An Update) by Liz Rice Other Marfan Links http://www.marfan.org http://www.widowmaker.com/~jnavia/index.html http://www.marfan.ca http://www.ucl.ac.uk/~ucahywc/

35. MARFAN SYNDROME: JR FACT SHEET This site is an in depth look into the life of someone who has marfan syndrome and what they have learned along the way. http://jrmarfan58.com

MARFAN SYNDROME: JR FACT SHEET Living with Marfans E-Mail ... JRMarfan58@aol.com ..... My name is Jon. I am a 45 year old Boston man who lives with a condition known as MARFAN SYNDROME. IMPORTANT PLEASE NOTE: This website is an outline of my life and research that I have done over the last 2 years. It in no way represents all Marfan cases. Information contained in this website is intended for informational purposes only. It is not intended to be a substitute for medical advice. See your physician with any and all questions regarding your medical condition. MARFAN SYNDROME: - A HARD LOOK - (Excerpts from the National Marfan Foundation) MARFAN SYNDROME is a progressive, incurable, genetic disorder of the connective tissue, frequently characterized by tall stature, long limbs and fingers, scoliosis, cardial complications and subluxatin of the lenses of the eyes. The greatest threat to life is from the cardiovascular deterioration which causes aneurysms. The associated orthopedic and opthalmological problems can cause severe handicapping including loss of mobility, chronic and debilitating pain and blindness. Medical reporting lags behind the reality of the severe manifestations of the Marfan Syndrome. It is only in the last few years that attention has been directed to this disorder. At this time there in no therapy or treatment to lessen deteriorating muscular and skeletal degeneration. Related Conditions Pictures SS Disabilty Checklist More Facts and Info ... Aortic Aneurysms-Facts

36. Marfan Syndrome / Family VillageLibrary Library M N. marfan syndrome. The National Marfan Foundation was foundedin 1981 by people who have the marfan syndrome and their families. http://www.familyvillage.wisc.edu/lib_marf.htm

Marfan Syndrome Who to Contact Where to Go to Chat with Others Learn More About It Web Sites ... Search Google for "Marfan Syndrome" Who to Contact National Marfan Foundation 22 Manhasset Avenue Port Washington, New York 11050 1-800-8-MARFAN 516-883-8040 (fax) E-Mail: staff@marfan.org Web: http://www.marfan.org/ The National Marfan Foundation was founded in 1981 by people who have the Marfan syndrome and their families. It is a voluntary organization that has three objectives. To disseminate accurate and timely information about this condition to patients, family members and the health care community. To provide a network of communications for patients and relatives to share experiences, support one another and improve their medical care. And to support and foster research. Canadian Marfan Association (CMA) Central Plaza Postal Outlet 128 Queen St. S. PO Box 42257 Mississauga, Ontario, Canada, L5M 4Z0 Fax: (905) 826-2125 E-Mail: info@marfan.ca Web: http://www.marfan.ca/ The Canadian Marfan Association provides accurate, timely information about Marfan Syndrome to help prevent early death and disability, and works to improve the quality of life for Marfan patients in Canada, through comprehensive programs of education, support, and research. They assist patients and their families to live optimally with Marfan Syndrome by forming self-help groups nationally, which will foster improved physical and emotional health and thus enable affected families to seek and follow the most comprehensive health care regime possible.

37. Marfan Syndrome: The Similarities To Copper Deficiency Reviews the similarities between copper deficiency and marfan syndrome includingaortic aneurysms and emphysema. marfan syndrome. The Links to Copper Deficiency. http://www.ctds.info/marfan_syndrome.html

Con nective Tissue Disorder Home Search Site Map ... Links Marfan Syndrome The Links to Copper Deficiency Read my Contents: Features Common to Both Marfan Syndrome and Copper Deficiency Indications That Marfan Syndrome May Be Affected by Nutrition Lung Disorders, Emphysema, Elastin, Desmosines and Nutrition Aneurysms, Elastin, Desmosines and Nutrition Features Common to Both Marfan Syndrome and Copper Deficiencies C opper is a trace mineral found in all body tissues. It is vital in making elastin, a chief component of the elastic muscle fibers found throughout the body, especially in the heart and lungs. It is needed to build strong bones, connective tissue and joints. Copper is needed for the proper function of the enzyme lysyl oxidase, which is required in the crosslinking of collagen and elastin. A significant portion of the symptoms of Marfan syndrome, and to a lesser extent some the other inherited connective tissue disorders, are identical to symptoms of copper deficiency. Geneticists believe that Marfan syndrome is caused solely by a genetic defect. But is it? Just because a disorder is inherited does not automatically exclude nutrition from playing a role in the manifestations of its symptoms.

38. Pregnancy And The Marfan Syndrome Pregnancy and The marfan syndrome. NOTE I am neither a doctor nora mother. As a woman with Marfan, one of the biggest differences http://www.widomaker.com/~jnavia/pregnancy.html

Pregnancy and The Marfan Syndrome NOTE: I am neither a doctor nor a mother. As a woman with Marfan, one of the biggest differences in my life from those of my non-affected sisters is that I had somewhat different issues to think about when choosing whether to become a mother or not. I'm hoping this page with help others with their own very personal decisions. Because Marfan syndrome is an autosomal dominant genetic disorder, there is a 50-50 chance that any offspring of a Marfan parent will have the disorder. Currently, there is no petri dish or prenatal test to determine if a fetus has the faulty gene unless the exact nature of his or her mutation in the fibrillin is known. OR "If DNA can be obtained from close relatives who are definitely known to have or not have the Marfan syndrome, then DNA can be obtained from the unborn baby and a process termed linkage analysis is carried out. This approach is highly accurate if sufficient information can be obtained from the family and does not require the knowledge of the specific mutation." (From The Marfan Syndrome, 4th edition, 1994, by Reed E. Pyeritz, M.D., PhD. and Charyll Gasner, M.N., C./F.N.P., p 36-37)

39. Marfan Syndrome - Health And Medical Information: Diseases And Conditions, Medic MedicineNet Home Diseases Conditions AZ List marfan syndrome. Advanced Search. marfan syndrome. http://www.medicinenet.com/Marfan_Syndrome/article.htm

MedicineNet Home > Marfan Syndrome Advanced Search Printer-Friendly Format Add to Favorites Email to a Friend ... Next page Marfan Syndrome What is Marfan syndrome? How common is Marfan syndrome? What are the characteristics of Marfan syndrome? What causes Marfan syndrome? ... Marfan Syndrome At A Glance What is Marfan syndrome? Marfan syndrome is an inherited condition that affects the connective tissue. The primary purpose of connective tissue is to hold the body together and provide a framework for growth and development. In Marfan syndrome, the connective tissue is defective. Because connective tissue is found throughout the body, Marfan syndrome can affect many body systems, including the skeleton, eyes, heart and blood vessels, nervous system, skin, and lungs. How common is Marfan syndrome? Marfan syndrome affects men, women, and children, and has been found among people of all races and ethnic backgrounds. It is estimated that at least 25,000 people in the United States have the disease. What are the characteristics of Marfan syndrome?

40. Marfan Syndrome marfan syndrome. Definition. It is estimated that one person in every 30005000has marfan syndrome, or about 50,000 people in the United States. http://www.healthatoz.com/healthatoz/Atoz/ency/marfan_syndrome.html

Encyclopedia Index M Home Encyclopedia Encyclopedia Index M Marfan syndrome Definition Marfan syndrome is an inherited disorder of the connective tissue that causes abnormalities of the patient's eyes, cardiovascular system, and musculoskeletal system. It is named for the French pediatrician, Antoine Marfan (1858-1942), who first described it in 1896. Marfan syndrome is sometimes called arachnodactyly, which means "spider-like fingers" in Greek, since one of the characteristic signs of the disease is disproportionately long fingers and toes. It is estimated that one person in every 3000-5000 has Marfan syndrome, or about 50,000 people in the United States. Marfan syndrome is one of the more common inheritable disorders. Description Marfan syndrome affects three major organ systems of the body: the heart and circulatory system, the bones and muscles, and the eyes. The genetic mutation responsible for Marfan was discovered in 1991. It affects the body's production of fibrillin, which is a protein that is an important part of connective tissue. Fibrillin is the primary component of the microfibrils that allow tissues to stretch repeatedly without weakening. Because the patient's fibrillin is abnormal, his or her connective tissues are looser than usual, which weakens or damages the support structures of the entire body. The most common external signs associated with Marfan syndrome include excessively long arms and legs, with the patient's arm span being greater than his or her height. The fingers and toes may be long and slender, with loose joints that can be bent beyond their normal limits. This unusual flexibility is called hypermobility. The patient's face may also be long and narrow, and he or she may have a noticeable curvature of the spine. It is important to note, however, that Marfan patients vary widely in the external signs of their disorder and in their severity; even two patients from the same family may look quite different. Most of the external features of Marfan syndrome become more pronounced as the patient gets older, so that diagnosis of the disorder is often easier in adults than in children. In many cases, the patient may have few or very minor outward signs of the disorder, and the diagnosis may be missed until the patient develops vision problems or cardiac symptoms.

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