williams syndrome famous people

Behrman RE, et al., eds. Buyse ML. WebMaisie Williams Game of Thrones actress, Maisie Williams, better known as Arya Stark, battles imposter syndrome despite having starred in one of the most famous shows in television history. Michael J. June 9, 2011 — -- Williams Syndrome is a rare genetic condition -- so rare, in fact, that few people have ever heard of it. Am J Med Genet Suppl. Friendliness and fearlessness aside, people with Williams often have a number of physical ailments, including serious heart conditions. This chromosomal region has been designated Williams-Beuren Syndrome chromosome region 1 (WBSCR1). Hyperactivity and attention deficit disorder are also common, although most affected individuals have good long-term memory. Children with Williams syndrome tend to have certain personality traits. Nat Rev Neurosci. Some Fax: 203-263-9938, Washington, DC Office These features become more obvious as a child grows. No. Pop culture obsessives writing for the pop culture obsessed. Williams. Children with Williams syndrome may be anxious, but they also tend to be very friendly and outgoing. Williams Syndrome. Pagon RA, et al. However, growth spurts usually occur between the age of five and 10 years. While on the red carpet, Williams showcased her baby bump in a black long-sleeved dress, with a deep v-neckline and silver sequins on the bottom of it. The most frequent defect is supravalvar aortic stenosis, a condition characterized by the narrowing of the aorta above the aortic valve. 560 Kirts Blvd. The ultimate goal of IAMRARE is to unite patients and research communities in the improvement of care and drug development. Such social disinhibition and innocence can have real-life consequences, and that extends to adults with Williams Syndrome. In one experiment to test empathy, the adult experimenter bangs her knee on a table and expresses a great deal of pain. In Australia, some states have specific support groups for people with Williams syndrome, their families and carers. His outlook, determination and dedication to making others happy makes me almost walk on air.. Marion-Rivard makes it easy to root for Gabrielle. Does Orlando Bloom Have William's Syndrome? Continue with Recommended Cookies. We may earn a commission from links on this page. Williams syndrome (WS), also known as Williams-Beuren syndrome, is caused by a deletion of part of chromosome 7 and is a multisystem disorder that was first identified as a distinct clinical entity in 1961. 1990;6:89-96. Featuring successful actors, Hollywood celebs, and more, this list of celebrity autistic people includes Daryl Hannah, Andy Kaufman, and more. Williams Syndrome Australia has a range of information and useful resources. It's a rare genetic condition, affecting about 1 in 20,000 people. Saunders Company; 1996:475-6, 1989. In an interview about her acting career she said, I think even being an actress for over a decade now, I still have imposter syndrome. Because these issues can develop over time, doctors will want to see your child regularly. We performed a novel study in our Chris has Williams Syndrome (WS), a rare genetic disorder affecting around one in 18,000 people in Britain. When Williams announced her retirement from professional tennis in August 2022, she revealed that she was leaving tennis to focus on growing her family. The latest information about the 2019 Novel Coronavirus, including vaccine clinics for children ages 6 months and older. Their nose, mouth, and other facial features may be unique. The genes are usually missing in the sperm or egg before they meet up to form the baby. Washington, DC 20036 As you would guess, children without Williams avoid the stranger like the plague. 1989;62:315-319. Chromosomes, which are present in the nucleus of human cells, carry the genetic information for each individual. Many infants with Noonan syndrome also have heart (cardiac) defects, such as obstruction of proper blood flow from the lower right chamber of the heart to the lungs (pulmonary valvular stenosis). Skeletal abnormalities may become worse as affected individuals age. Did Billy Graham speak to Marilyn Monroe about Jesus? The iris in Williams syndrome. Amy Koch, age 46 was featured in KLRU-TVs Women and Girls Lead series in Austin, TX, a multi-year, public media initiative to focus, educate and connect citizens worldwide in support of the issues facing women and girls. Amy is a graduate ofProject SEARCH, a best practice for hiring individuals with developmental disabilities created at Cincinnati Childrens Hospital and Medical Center. The former tennis star arrived at the Metropolitan Museum of Art on 1 May alongside her husband, Alexis Ohanian. Gabrielle explores Williams syndrome by casting an actress who actually has it By Mike D'Angelo Published July 3, 2014 Comments ( 16) Reviews B- Gabrielle The numbered bands specify the location of the thousands of genes that are present on each chromosome. Williams syndrome may also be associated with heart (cardiac) defects, abnormally increased levels of calcium in the blood during infancy (infantile hypercalcemia), musculoskeletal defects, and/or other abnormalities. Famous People with Williams Syndrome Amy Koch Amy, 46, was highlighted in Austin, Texass Women and Girls Lead series on KLRU-TV. She's awesome! Serena Williams has confirmed that she is pregnant with her second child during the Met Gala. Why Am I Having Light Bleeding,no Cramps Just Gas? Johnson LB, et al., Hyperacusis in Williams syndrome. "Last year they put two stents in and, during the process, he had a stroke. Donnai D, et al., Williams syndrome: from genotype through to the cognitive phenotype. I can't help but think that the Britain's got Talent star Susan Boyle may have it. Marion-Rivard, who won Canadas equivalent of the Best Actress Oscar earlier this year (the film itself won Best Picture), gives a strong, sophisticated performance, even as shes disarmingly open in a way that would be almost impossible for an actor without Williams syndrome to fake. While children, even babies, prefer people of their own race, the neural pathway that imprints for race bias is somehow lacking in children with Williams. Following the event, Shriner Craig (Doc) Kazin posted the following on his Facebook page: I am humbled to report that I had one of the most overwhelmingly positive clowning experiences of my life this past weekend, clowning with Ben Monkaba who has Williams syndrome. Its really all about helping fellow human beings on this earth. Meyer-Lindenberg A, Mervis CB, Faith Berman K. Neural mechanisms in Williams syndrome: a unique window to genetic influences on cognition and behavior. Williams Syndrome Famous People is a rare genetic condition that causes mild to moderate intellectual disability and also unique personality traits. Then the doctor will look for facial features like an upturned nose, wide forehead, and small teeth. Williams syndrome is usually diagnosed before a child is 4 years old. Williams confirmed her pregnancy during a red carpet interview and also on Instagram. Williams syndrome, also known as Williams-Beuren syndrome, is a rare genetic disorder characterized by growth delays before and after birth (prenatal and postnatal growth retardation), short stature, a varying degree of mental deficiency, and distinctive facial features that typically become more pronounced with age. "It's very scary," Anne Martin told 20/20. It is most pronounced in those infants with blue or green eyes. In many runs the lab recorded, the typically-developing child just watched and expressed no empathy or concern. But with the right treatment, they can stay healthy and do well in school. Musculoskeletal abnormalities associated with Williams syndrome may include depression of the breastbone (pectus excavatum), abnormal side-to-side or front-to-back curvature of the spine (scoliosis or kyphosis), or an awkward gait. By continuing to use this website, you agree to the Terms of Service & Privacy Policy. Full HDThis home outdoor projector supports a 50-250" projection size, allowing you to enjoy the joy of a large screen whether indoors or outdoors. Arch Dis Child. Dominant genetic disorders occur when only a single copy of an abnormal gene is necessary for the appearance of the disease. A bladder and kidney ultrasound can check for urinary tract conditions. Distinctive skeletal malformations are also typically present, such as abnormalities of the breastbone (sternum), curvature of the spine (kyphosis and/or scoliosis), and outward deviation of the elbows (cubitus valgus). 2005 - 2023 WebMD LLC, an Internet Brands company. If I were a guy, I wouldnt be writing this because Id be out there playing and winning while my wife was doing the physical labour of expanding our family.. "Where do you live?" Williams Syndrome (WS) affects an estimated 20,000 to 30,000 people in the United States. We and our partners use cookies to Store and/or access information on a device. 800.806.1871 Symptoms may include fatigue, pain in the chest, dizziness, unusual heart sounds (murmurs) and/or temporary loss of consciousness (syncope). For more information please contact the center nearest to you: Cincinnati Center for Developmental Disorders. Its just too bad that rooting for Gabrielle is all the movie has in mind. Bennett JC, Plum F., eds. This home outdoor projector supports a 50-250" projection size, allowing you to enjoy the joy of a large screen whether indoors or outdoors. Pairs of human chromosomes are numbered from 1 through 22, and an additional 23rd pair of sex chromosomes which include one X and one Y chromosome in males and two X chromosomes in females. What do most children with Williams Syndrome do when presented with the creepy spider? Calcium metabolism in Williams-Beuren syndrome. This disorder has its good points and bad points, but it can be defined by peculiar enhancements of regular social skills, coupled with a distinctive, "elf-like" face and body. 15th ed. WebWilliams syndrome is caused by a microdeletion of at least 16 genes on chromosome 7q11.23. Blood passes from the left ventricle of the heart, through the aortic valve, and into the aorta. Children with Williams, however, often engage the stranger in conversation, and in one case we saw a child even offered a toy for the stranger to play with. Transition Strategies - High School to Adult Life, Our 40th AnniversaryA Year of Transition for the WSA, everyone benefits when individuals with WS are meaningfully included in educational, work, and community settings, individuals with WS should receive all necessary supports and services to fully participate in their family lives, communities, and society as a whole, high expectations should be the norm, and that individuals with WS and their families should decide how they best learn, work, and enjoy social settings, inclusion is not one-size-fits-all, and will look different for each family based on each individuals desires and needs, inclusion creates a sense of belonging in society, meaningful relationships, and opportunities to achieve dreams. People with Williams syndrome, a rare genetic condition, face problems every bit as challenging as those with autism, from learning difficulties to trouble forming All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site. The French-Canadian drama Gabrielleno relation to the acclaimed 2005 French-but-not-Canadian movie Gabriellestarring Isabelle Huppertis about a young woman with Williams syndrome, played by a non-professional actor who actually has it. In addition, most affected individuals have mild to moderate mental retardation; poor visual-motor integration skills; a friendly, outgoing, talkative manner of speech; a short attention span; and are easily distracted. Most people with Williams syndrome will not have the ELN gene. WebMD does not provide medical advice, diagnosis or treatment. 1990;65:987-989. For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office: For information about clinical trials sponsored by private sources, contact: Researchers at the University of Nevada School of Medicine, Indiana University School of Medicine, and Utah School of Medicine are studying DNA taken from blood samples of children with Williams syndrome. They sometimes have trouble learning. Award for Best Actress in 2014. (For more information on this disorder, choose Attention Deficit Hyperactivity as your search term in the Rare Disease Database.). In some cases, it may not be diagnosed until the child starts school. For more information, contact: The following is a list of Williams syndrome clinics. Williams syndrome (WS), also referred to as Williams-Beuren syndrome (Online Mendelian Inheritance in Man 194050), is a congenital, multisystem disorder involving the cardiovascular, connective tissue, and central nervous systems. For instance, actress Jamie Lynn Spears has been featured in a variety of films and television shows, and the singer and songwriter Carly Simon has won multiple Grammy Awards. ", U.S. National Library of Medicine: "Williams syndrome.". Comparisons may be useful for a differential diagnosis: Noonan syndrome is a rare genetic disorder that is typically evident at birth (congenital). Serena Williams has confirmed that she is pregnant with her second child during the Met Gala. debilitating characteristics of Williams Syndrome include According to investigators, 28 genes within the 7q11.23 chromosomal region may play a causative role in Williams syndrome including those known as the ELN (elastin) gene, the LIMK1 (or LIM kinase-1) gene, and the RFC2 (replication factor C, subunit 2) gene. What time does normal church end on Sunday? I'm 16, 5'2", and my penis is 3 1/2" soft and around 5" hard. National Williams Syndrome Australia 0439 431 256 or email: info@williamssyndrome.org.au. Narrowed arteries don't let as much oxygen-rich blood reach the heart and body. To view the purposes they believe they have legitimate interest for, or to object to this data processing use the vendor list link below. (For more information on this disorder, choose Ventricular Septal Defects as your search term in the Rare Disease Database. Troy, MI 48084-4153, 248.244.2229 In familial cases, Williams syndrome is inherited as an autosomal dominant trait. Breast development and menstruation may occur earlier than expected in females with Williams syndrome. Here are some related questions which you might be interested in reading. Neuro. Challenging this aint. All rights reserved. It is present at birth and causes problems with the way the body and brain develop. Turn on desktop notifications for breaking stories about interest? Kruse K, et al. Is Brooke shields related to willow shields? If we dont have a program for you now, please continue to check back with us. Shes old enough to have fallen in love, however, and has formed a romantic relationship with fellow choir member Martin (Alexandre Landry), to the intense disapproval of Martins overprotective mother (Marie Gignac). 2006;66:390-5. To learn more about Williams syndrome, get help from an organization that specializes in rare disorders. Zealander J.C.P. Parents often say the joy and perspective a child with WS brings into their liveshad been unimaginable, and their special personalities and perseverance help make dreams come true. Williams Syndrome is caused by the deletion of roughly 25 genes on chromosome 7. (For more information on this disorder, choose Noonan as your search term in the Rare Disease Database.). The American Academy of Pediatrics released a policy statement in May 2001 on the topic, Health Care Supervision for Children with Williams Syndrome (RE0034). Children with WS need costly and ongoing medical care and early interventions (such as speech, physical and occupational therapy) that may not be covered by insurance or state funding. Approximately one-third of children seen by us need heart surgery, often by the time they turn 5 years old. Talkative and curious, these sorts of people may go too far in their conversations and social activities - they may be too outgoing and talkative for other people. ", Williams Syndrome Association: "Frequently Asked Questions About Williams Syndrome and the WSA," "What Is Williams Syndrome? Cardiac defects may include obstruction of proper blood flow from the lower right chamber (ventricle) of the heart to the lungs (pulmonary stenosis) or abnormal narrowing above the valve in the heart between the left ventricle and the main artery of the body (supravalvular aortic stenosis). WebWilliams Syndrome Contact Us Contact the Benderson Family Heart Center 617-355-4278 Email heart@childrens.harvard.edu Request an Appointment Request a Second Opinion Listen Overview Symptoms & Causes Diagnosis & Treatments Research & Innovation Programs & Services Contact Us What is Williams syndrome? Physical Appearance Or Personality? These can include heart and blood The story is set on Earth near the end of the 21st century, probably between 2082 and 2089, in a world where technology has advanced somewhat beyond the present. Individuals with this disorder may also have an unusually hoarse voice. Williams Syndrome Famous People Many famous people have WS including singer/songwriter Carly Simon and opera singer Andrea Bocelli. Please note that NORD provides this information for the benefit of the rare disease community. Am J Med Genet. 5th ed. Last updated: The consent submitted will only be used for data processing originating from this website. WebThere are no concrete, confirmed examples of celebrities who suffer from Williams Syndrome, although there are rumors that the amazingly gregarious comedian, Carrot Bens dream came true recently when he was able to spend a full day clowning with theMelha Shrine Clownsin Springfield, MA. On her account, she shared a photoshoot that she and Ohanian did in their Met Gala looks, with pictures of Williams cradling her bump. And not just any stranger, but one wearing a baseball cap and dark sunglasses. In these cases, we collaborate with our nationally renowned pediatriccardiothoracic surgeonsat theBetty Irene Moore Childrens Heart Center, to provide highly complex, expertheart surgeryfor your child. Older children and adults with Williams syndrome may develop progressive joint problems that limit their range of motion. It is, however, frequently charming. ", With such empathy comes a lack of fear. It can also affect a child's ability to learn. Skeletal and joint abnormalities may result in an abnormal manner of walking (awkward gait). The way her entire face crinkles with delight in response to almost anything kind or amusing thats said to her is impossible to resist, but when the script requires her to simulate anguish or despair, she does the job as convincingly as any pro. But this lack of fear has a scary side, too. Genetic counseling may be of benefit for people with Williams syndrome and their families. For example, chromosome 11p13 refers to band 13 on the short arm of chromosome 11. Suite 500 Several persons of note and distinction have come from the historic city of Verona. Guillain barre syndrome is an autoimmune disorder which is characterized by weakness and numbness in Are There Any Famous People With Williams Syndrome? This multi-year public media campaign aims to bring attention to, inform, and unite people worldwide to support issues affecting women and girls. Gabrielle Marion-Rivard, Alexandre Landry, Mlissa Dsormeaux-Poulin (in French w/ subtitles). Williams syndrome is characterized by a wide spectrum of symptoms and physical features that vary greatly in range and severity, even among affected family members. MAY IS WILLIAMS SYNDROME AWARENESS MONTH! Have fun and I know the game will be good! Leahs enthusiasm is working; the Eagles are 19 8 this season! WebResources and support. Holmstrom G, et al. (Its also refreshing to see a film that acknowledges, without fuss, that people with disabilities still feel sexual desire.) Some affected individuals may have visual difficulties; they may tend to view a picture in parts as opposed to seeing it as a whole. Now 11, Alex rides a bike, plays drums and piano, and attends a regular school. 1992;121: 902-907. Individuals with Williams syndrome will not have all the symptoms listed below. Williams syndrome: an historical perspective of its evolution, natural history, and etiology. It is characterized by medical problems, including cardiovascular disease, developmental delays, and learning challenges. Some affected individuals may have a sunken breastbone (pectus excavatum) and inward turning of the great toe toward the other toes (hallux valgus). But that one, should you ever meet him or her, will likely have a personality of unforgettable ebullience and warmth. Sporadic and familial cases are thought to result from deletion of genetic material from adjacent genes (contiguous genes) within a specific region of chromosome 7 (7q11.23). 7 that are responsible for creating elastin, a connective tissue that gives structure, support, and resilience to tissues found in your childs lungs, skin, tendons, ligaments, and arteries. What Is Your Defined Idea Of Beauty? 1 It is present at birth with a prevalence of 1 in 7500 2 and affects boys and girls equally. English singer-songwriter Sam Smith has proven a prime targeted for those perpetuating this panic, ever since they came out as non-binary in the tail-end of 2019. Moderately-sized defects can cause congestive heart failure resulting in an abnormally rapid rate of breathing (tachypnea), wheezing, an unusually fast heartbeat (tachycardia), enlargement of the liver, and/or failure to thrive. Rae C, et al. Your support helps to ensure everyones free access to NORDs rare disease reports. Serena Williams has confirmed that she is pregnant with her second child during the Met Gala. An example of data being processed may be a unique identifier stored in a cookie. The development of our personalities is a complex relationship between our social environment and our genes -- both present and not. Every child with Williams syndrome is different. The diagnosis of Williams syndrome may be confirmed by a thorough clinical evaluation that includes a detailed patient history and specialized blood tests that may detect elevated levels of calcium in the blood. However, many people with Williams syndrome go on to lead happy and successful lives. Hypercalcemia, which is associated with some cases of Williams syndrome, may occur because of an abnormal sensitivity to vitamin D. Williams syndrome is a rare disorder that affects males and females in equal numbers and infants of any race may be affected. At the same time, though, shes devastated when her sister, Sophie (Mlissa Dsormeaux-Poulin), who helps look after her, suggests that she may join her boyfriend in India, where he works with underprivileged children. Sarah Leenhoff is a williams syndrome famous person who became well known after she posted a series of images from her art collection on social media. Learn more. Symptoms of the following disorders can be similar to those of Williams Syndrome. People with the syndrome may be overly friendly, even to strangers. There have been no other famous 2000;98:324-9. The abnormal gene can be inherited from either parent, or can be the result of a new mutation (gene change) in the affected individual. Will the choirs big public performance with real-life Qubcois singer Robert Charlebois be a huge success? Gabrielle Marion-Rivard, a Canadian actress, has this disorder. I dont think its fair. Though there are 20,000 to 25,000 genes in the human genome, even the loss of just 25 genes can have profound effects on a person's physical, behavioral and cognitive make-up. NORD strives to open new assistance programs as funding allows. Williams syndrome is a genetic condition that affects many parts of the body. Giddins NG, et al. A Podcast For The Rare Disease Community, Rare Disease Cures Accelerator (RDCA-DAP), Policy Statements & Letters to Policymakers, Stay Informed With NORDs Email Newsletter, Launching Registries & Natural History Studies, https://rarediseases.org/patient-assistance-programs/medicalert-assistance-program/, https://rarediseases.org/patient-assistance-programs/rare-disease-educational-support/, https://rarediseases.org/patient-assistance-programs/caregiver-respite/, Learn more about Patient Assistance Programs >, https://rarediseases.org/organizations/williams-syndrome-association/, https://rarediseases.org/non-member-patient/new-horizons-un-limited-inc/, NIH/National Institute of Child Health and Human Development, https://rarediseases.org/non-member-patient/nih-national-institute-of-child-health-and-human-development/, https://rarediseases.org/non-member-patient/the-arc/, https://rarediseases.org/non-member-patient/williams-syndrome-family-of-hope/, https://rarediseases.org/non-member-patient/williams-syndrome-foundation/, Learn more about Patient Organization & Membership >, Early Hypercalcemia Syndrome with Elfin Facies, Hypercalcemia-Supravalvar Aortic Stenosis. Smiths Recognizable Patterns of Human Malformation. The former tennis star arrived Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. Dental abnormalities may also occur including abnormally small, underdeveloped teeth (hypodontia) with small, slender roots. When 20/20's Chris Cuomo attended a camp for children with Williams he was besieged by hugs and slaps on the back. The deletion can occur randomly during the production of a sperm or egg cell. Amys lessons for all of us, be proud of who you are and dont let people stop you from trying, are lessons that she lives each day in her job as a floor supply specialist at Seton Medical Center. Am J Med Genet. Who are some famous people with Williams syndrome? The syndrome results in mild to moderate mental retardation or learning disability. Some studies in the medical literature question whether idiopathic infantile hypercalcemia is a separate disorder from Williams Syndrome or if it is a variant of the same disease. Rossen ML, et al. Why should neurologists be interested in Williams syndrome? Gorlin RJ, et al., eds. Affected infants may also experience inward deviation of the eyes (esotropia) and farsightedness (hyperopia). Williams syndrome can cause symptoms in different parts of the body, such as the face, heart, and other organs. Shes a visual artist whose work has been featured on GQ and DJ Khaled. People with this disorder are not able to use the insulin effectively. Years published: 1986, 1987, 1988, 1989, 1992, 1993, 1995, 1996, 1998, 1999, 2000, 2002, 2003, 2006. The symptoms they have depend on the genes they're missing. Children are slower to walk, talk, and gain new skills compared to other children their age. ET. Williams syndrome: features in late childhood and adolescence. She starred in the film "Gabrielle," and won the Canadian Screen Researchers hope to describe the possible genetic relationship between these two closely linked diseases. Williams syndrome is a neurodevelopmental disorder characterized by hypersociability and unique neurocognitive abnormalities. I have wondered the same, although I'm not sure the facial features fit. What Are The Shared Values Of The Doctoral Community? Balanced barium hydroxide and sodium sulfate? Children with Williams syndrome are extremely sensitive to sound and may overreact to unusually loud or high-pitched sounds (hyperacusis). Your doctor will do an exam and ask about your family medical history. Copyright 2023 Williams Syndrome Association |. Babies born with Williams syndrome can be very small. Learn more about Alex, Kelley Martin and Williams Syndrome on "20/20" tomorrow at 10 p.m. 1998;52:8-9. The natural course of supravalvar aortic stenosis and peripheral pulmonary artery stenosis in Williams syndrome. Cardiac anomalies in Williams-Beuren syndrome. Your child might get a blood test called FISH, or fluorescence in situ hybridization, to see if any genes are missing. 1999;286:2355-8. List of famous people with Aspergers syndrome ranked by fame and popularity. Theyre also unusually gregarious, taking an instant liking to virtually all strangers (until given a reason to distrust them) and engaging in acts of spontaneous physical affection that non-disabled folks often find inappropriate, for a variety of complex social reasons. Suite 116 Troy, MI 48084-4153. info@williams-syndrome.org. Toy maker Mattel has introduced its first Barbie with Down's syndrome in a bid to make its famous doll range more inclusive. The appropriate use of language and vocabulary range may be unusually enhanced in some children with this disorder. OurPulmonary Artery Reconstruction (PAR)program is the top program in the world for pulmonary artery reconstruction, famous for a novel, highly complex surgical technique calledunifocalization, developed and pioneered by our Heart Center director,Frank L. Hanley, MD. The majority of adults with WS need supportive housing to live to their fullest potential, and few are able to work a full-time job or earn a large enough salary to be self-sustaining. Dev Neuropsychol. Eur J Cardiothorac Surg. But the camp is a place where everybody wants to be your friend regardless of who you are or what you look like. Williams syndrome can be diagnosed shortly after birth, yet sometimes it is mild and goes undetected until later in childhood when a heart murmur is noticed by a doctor.

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