Raising Children Network is supported by the Australian Government. Ideally, people with PWS will receive treatment and support from a whole team of health professionals. This can lead to overeating and obesity. This part of the chromosome is called unstable because it is prone to being shuffled around by the cell's genetic machinery before the chromosome is passed on from parent to child. Its good to see yourself as working in partnership with your childs professionals. Prader-Willi syndrome is a chromosomal deletion syndrome in which part of chromosome 15 is missing. To measure the effect of GHt on physical and psychosocial health in adults with PWS. 1 This region was identified in 1990 using genetic DNA probes. Your Preemie's First Year: What to Expect, Battling Nature (Part 1): Genetic Possibilities. If you need urgent medical help, call triple zero immediately. Copyright 2023 Merck & Co., Inc., Rahway, NJ, USA and its affiliates. About 70% of people who have Prader-Willi syndrome are missing part of chromosome 15. WebMD does not provide medical advice, diagnosis or treatment. Importantly it will also enable families to continue to provide care within the home environment.". Support for this browser is being discontinued for this site. Hormonal problems are common, and the function of the reproductive organs is abnormally decreased, which limits growth and sexual development. Only about 1 in 10,000 to 30,000 people in the world have PWS. It affects all Further studies are needed for elucidating the mechanism of PWS. Diagnosing PWS as early as possible allows treatments that can help significantly with some of the symptoms. 2018 Sep;55(9):594-598. doi: 10.1136/jmedgenet-2017-105118. Background: If you take care of yourself, youll be better able to care for your child. Federal government websites often end in .gov or .mil. Select a symptom, answer some questions, get advice. https://www.pwcf.org/wp-content/uploads/2015/10/Genetic-of-PWS-Explanation-for-rest-of-us-20041.pdf, https://pubmed.ncbi.nlm.nih.gov/29271568/, Spotlight: Food for Health: Nutrition Research across the Lifespan, Experimental therapy for Prader-Willi syndrome shows promise in mice, National Child & Maternal Health Education Program. -, Cassidy SB, Schwartz S, Miller JL, Driscoll DJ. Effectiveness of naltrexone for treating pathologic skin picking behavior in an adolescent with PraderWilli syndrome. An official website of the United States government. (See also Next-generation sequencing technologies Next-generation sequencing technologies Genetic diagnostic technologies are scientific methods that are used to understand and evaluate an organism's genes. Healthdirect Australia is not responsible for the content and advertising on the external website you are now entering. Your doctor can usually diagnose PWS with a blood test called a chromosomal analysis. Also the occurrence of side-effects will be assessed. Talking to other parents can be a great way to get support too. This site needs JavaScript to work properly. Prenatal and Neonatal Characteristics of Children with Prader-Willi Syndrome. Where Can I Find Clinical Care Recommendations and Practice Guidelines? Other physical signs and symptoms can include: Cognitive signs Most children with Prader-Willi syndrome have mild to moderate intellectual disability. Multicentre study of maternal and neonatal outcomes in individuals with Prader-Willi syndrome. A preliminary analysis of the phenomenology of skin-picking in Prader-Willi syndrome. Morandi A, Bonnefond A, Lobbens S, Carotenuto M, Del Giudice EM, Froguel P, Maffeis C. Am J Med Genet A. For example, a lack of height can be treated with growth hormone. Benjamin, E., & Buot-Smith, T. (1993). Banga, A., & Connor, D. F. (2012). Brought to you by Merck & Co, Inc., Rahway, NJ, USA (known as MSD outside the US and Canada)dedicated to using leading-edge science to save and improve lives around the world. National Library of Medicine HHS Vulnerability Disclosure, Help The information you enter will appear in your e-mail message and is not retained by Medical Xpress in any form. FOIA 2012;14(1):1026. Retractile testes (hypermobile testes) have descended into the read more (cryptorchidism) and an underdeveloped penis and scrotum. Please check and try again. But if you plan to have a baby, you and your partner can be screened for PWS risk. The condition was first described in 1956 and is caused by the absence of certain genes on chromosome 15. This syndrome is a rare condition, which happens in 1 in 15 000 births. Early intervention includes therapies, education and other supports that will help your child reach their full potential. Developing an understanding of skin picking in people with Prader-Willi syndrome: A structured literature review and re-analysis of existing data. Your child's doctor should screen for scoliosis, hip dysplasia, or thyroid problems. Learn more here about the development and quality assurance of healthdirect content. 2015 Nov;167A(11):2720-6. doi: 10.1002/ajmg.a.37222. Apart from any fair dealing for the purpose of private study or research, no The genetic changes that cause Prader-Willi syndrome occur in a portion of the chromosome, referred to as the Prader-Willi critical region (PWCR), around the time of conception or during early fetal development. The PubMed wordmark and PubMed logo are registered trademarks of the U.S. Department of Health and Human Services (HHS). Specialized therapy can help your child deal with sleep apnea, thyroid issues, and other symptoms common to this condition. For general feedback, use the public comments section below (please adhere to guidelines). PMC type of skin An unrelenting feeling of hunger is common. Low muscle tone also means that it takes children with Prader-Willi syndrome longer to reach developmental milestones like sitting, crawling and walking. All rights reserved. Rett syndrome is a genetic disorder that causes intellectual and physical disability. Diagnostic and statistical manual of mental disorders (5th ed.). View this study on Beta.ClinicalTrials.gov, Genetic and Rare Diseases Information Center, U.S. Department of Health and Human Services. Keywords: Genetic counseling and testing provide individuals and families with information about the nature, inheritance, and implications of genetic disorders so that they can make informed medical and personal decisions about having children. WebPrader-Willi syndrome (PWS) is a rare, complicated condition that affects many parts of your body. We pay our respects to the Traditional Owners and to Elders both past and Your email address is used only to let the recipient know who sent the email. Washington, DC: American Psychiatric Association. Naltrexone and fluoxetine in PraderWilli syndrome. They may have almond-shaped eyes, their head may get narrow at the temples, theirmouth might turn down at the corners, and they might have a thin upper lip. Although anti-obesity medications (AOMs) are prescribed to this population, there are no consensus guidelines on acceptability, safety, and efficacy. 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They get tired easily and can fall asleep during the day. The diagnosis of Prader-Willi syndrome may be suspected before birth or by the child's physical characteristics after birth. Conclusions: Nineteen parents/carers who observe skin picking shown by the person they care for completed a semi-structured interview. Many research studies show that human growth hormone is beneficial. Minor Clinical Criteria of Prader-Willi Syndrome Decreased movement and noticeable fatigue during infancy Behavioral problems-specifically, temper tantrums, obsessive-compulsive behavior, stubbornness, rigidity, stealing, and lying (especially related to food) Sleep problems, including daytime sleepiness and sleep disruption (1) Background: children with Prader-Willi syndrome (PWS) have high obesity rates due to hyperphagia and decreased metabolic rates. 2006-2023 Raising Children Network (Australia) Limited. and transmitted securely. A key feature of Christina Meade et al. Please check and try again, Recipient's email is invalid. -, Bachere N, Diene G, Delagnes V, Molinas C, Moulin P, Tauber M. Early diagnosis and multidisciplinary care reduce the hospitalization time and duration of tube feeding and prevent early obesity in PWS infants. official website and that any information you provide is encrypted Enter search terms to find related medical topics, multimedia and more. Pujol J, Blanco-Hinojo L, Esteba-Castillo S, Caixs A, Harrison BJ, Bueno M, Deus J, Rigla M, Maci D, Llorente-Onaindia J, Novell-Alsina R. J Psychiatry Neurosci. They also use genetic testing. ", More information: -. Prader-Willi syndrome is a rare genetic disorder that affects development and growth. (See also Genes and Chromosomes.) Ongoing research is being done to find treatments that help improve the prognosis for children and adults who have Prader-Willi syndrome. o [ pediatric abdominal pain ] From around 2 years of age, affected children can start to develop other symptoms such as: As adolescents and adults, people with PWS tend to have breathing and sleeping issues, as well as a general lack of energy. WebPrader-Willi syndrome (PWS) is a genetic condition that affects many parts of the body. 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How do healthcare providers diagnose PWS? If you need support, you could start by talking with your GP or a genetic counsellor. This study aimed to characterize the perinatal features of 134 Chinese individuals with PWS. Health professionals diagnose Prader-Willi syndrome by looking at the physical and other signs listed above. Unable to load your collection due to an error, Unable to load your delegates due to an error. Symptoms may include alterations to the persons speech, mobility, memory and even personality. Australian guidelines recommend that doctors refer all children they see with PWS to a specialist PWS clinic (available in most capital cities) for additional care. Abnormalities of the face include almond-shaped eyes and a mouth with thin upper lips and down-turned corners. DOI: 10.1111/apa.15738. It can cause physical issues, like extreme hunger and weak muscles, as well as learning and behavioral problems. 2005 Jul 25;7(14):1-20. doi: 10.1017/S1462399405009531. The This study aimed to characterize the perinatal features of 134 Chinese individuals with PWS. The overall objective of this study is to measure the effect of growth hormone (GH) treatment on physical and psychosocial health in adults with Prader-Willi syndrome. Clipboard, Search History, and several other advanced features are temporarily unavailable. In early childhood, kids with PWS start to show other signs. By clicking Subscribe, I agree to the WebMD, Smart Grocery Shopping When You Have Diabetes, Surprising Things You Didn't Know About Dogs and Cats, Bird Flu Deaths Prompt U.S. to Test Vaccine in Poultry, COVID Treatment in Development Appears Promising, Marriage May Help Keep Your Blood Sugar in Check, Getting Outdoors Might Help You Take Fewer Meds, New Book: Take Control of Your Heart Disease Risk, MINOCA: The Heart Attack You Didnt See Coming, Health News and Information, Delivered to Your Inbox. The site is secure. Anomalous basal ganglia connectivity and obsessive-compulsive behaviour in patients with Prader Willi syndrome. The genetic changes that cause Prader-Willi syndrome occur in a portion of the chromosome, referred to as the Prader-Willi critical region (PWCR), around the time of conception or during early fetal development.1 This region was identified in 1990 using genetic DNA probes. Feeding difficulty existed in 99.3% of the infants, 94.8% of whom had failure to thrive. No benefits in any form have been received or will be received from a commercial party related directly or indirectly to the subject of this article. WebPrader-Willi syndrome is a rare complex genetic disorder involving many different systems in the body, including the hypothalamus and pituitary gland, which are parts of the brain controlling hormones and other important functions such as appetite. Genes are segments of deoxyribonucleic read more .). The link you have selected will take you to a third-party website. Accessibility PWS usually happens because of genetic changes on a region of chromosome 15.. Hormone replacement may build stronger bones and prevent osteoporosis later on. The trusted provider of medical information since 1899, Overview of Chromosome and Gene Disorders, Overview of Chromosomal Deletion Syndromes, Full review/revision Dec 2021 | Modified Sep 2022. Prenatal diagnosis also is available for at-risk pregnancies-that is, pregnancies among women with a family history of Prader-Willi syndrome abnormalities. Some features, tools or interaction may not work correctly. All rights reserved. (2001). In addition, we found that quality of life in the patient and the entire family is negatively impacted by increased weight.". PraderWilli He is described as Asian, around 5ft 6ins tall, of medium build with (2013). sharing sensitive information, make sure youre on a federal Use this form if you have come across a typo, inaccuracy or would like to send an edit request for the content on this page. Keywords provided by dr. Laura C. G. de Graaff-Herder, Erasmus Medical Center: Why Should I Register and Submit Results? Listing a study does not mean it has been evaluated by the U.S. Federal Government. This study included the patients of a PWS registry in China. government site. Weight gain often continues into adulthood and is excessive, which can lead to other health problems, such as obesity. WebPrader-Willi Syndrome Description Prader-Willi Syndrome (PWS) is a complex genetic disorder that typically causes low muscle tone, short stature, incomplete sexual development, cognitive disabilities, problem behaviours, and a chronic feeling of hunger that can lead to excessive eating and life-threatening obesity. Your feedback is important to us. sharing sensitive information, make sure youre on a federal This study addressed the temporal (frequency, duration) and wider characteristics (e.g. For teens with PWS, hormones like testosterone, estrogen, or human growth hormone (HGH) may help with small stature, poor muscle tone, or extra body fat. Seattle, WA: University of Washington. Talk with your doctor and family members or friends about deciding to join a study. You have reached the maximum number of saved studies (100). Children learn the most from the people who care for them and with whom they spend most of their time, so everyday play and communication with you can help your child a lot. National Library of Medicine Perinatal and neonatal presentations were analyzed, and compared between the two PWS genetic subtypes. 1998 Oct 6 [updated 2017 Dec 14]. Cassidy, S. B., & Schwartz, S. (2009). The NDIS helps you get services and support in your community. Children with PWS are usually able to go to school and may go on to work in supported employment. Children have bone disorders (such as scoliosis Scoliosis Scoliosis is abnormal curvature of the spine. You can unsubscribe at any time and we'll never share your details to third parties. Other sources suggest Would you like email updates of new search results? Akefeldt, A., & Gillberg, C. (1999). At raisingchildren.net.au we acknowledge the traditional custodians of the land on which we live, gather and work. If your child tries to grab and hide food, you might lock cabinets, the pantry, or the refrigerator. The data will be available for 15 years. For general inquiries, please use our contact form. o [teenager OR adolescent ], , MD, Sidney Kimmel Medical College at Thomas Jefferson University, (See also Overview of Chromosome Disorders Overview of Chromosome and Gene Disorders Chromosomes are structures within cells that contain a person's genes. Use OR to account for alternate terms Unauthorized use of these marks is strictly prohibited. Medical problem? Interventions that are behavioural, support emotion regulation and/ or are used in the typically developing population are therefore likely to be beneficial for future research. 2020 May;112:48-61. doi: 10.1016/j.neubiorev.2020.01.029. healthdirect's information and advice are developed and managed within a rigorous clinical governance framework. MeSH Please enter manually below. It stems from a problem with one of your chromosomes (a strand of DNA that carries your genes). Beck, A. T. (1967). Abstract. We do not control or have responsibility for the content of any third-party site. Prader-Willi (PRAH-dur VIL-e) syndrome is a rare genetic disorder that results in a number of physical, mental and behavioral problems. 82.8% of the patients were born by caesarean section. Findings also showed parents perceived increased weight and age of their child to have a significant negative impact on their child's psychosocial health and social functioning. This happens by chance. Information provided by (Responsible Party): dr. Laura C. G. de Graaff-Herder, Erasmus Medical Center. Behavior and personality characteristics of children and young adults with PraderWilli syndrome: A controlled study. Secondary endpoints are total fat mass, bone density, physical health and psychosocial health. Member organisations are the Parenting Research Centre and the Murdoch Childrens Research Institute with The Royal Childrens Hospital Centre for Community Child Health. Epub 2015 Jun 24. This site uses cookies to assist with navigation, analyse your use of our services, collect data for ads personalisation and provide content from third parties. The impact on families points to a clear need for social care services (such as respite) to be provided to families at an early stage. In affected children 3 years of age and older, other symptoms become apparent, such as obesity, intellectual delays, learning disabilities, or behavior problems, especially connected with food and eating.3. 42.5 and 18.7% of mothers had polyhydramnios and oligohydramnios during pregnancy, respectively. WebPrader-Willi syndrome (PWS) is a rare genetic condition that affects your childs metabolism and causes changes to their body and behavior. Results: FOIA In many cases of Prader-Willi syndrome, diagnosis is prompted by physical symptoms in the newborn. Skin picking is highly prevalent in people with Prader-Willi syndrome (PWS). Behaviour signs One of the key characteristics of Prader-Willi syndrome is excessive appetite. GeneReviews. The investigators intent to share the full anonymized dataset, study protocol and statistical analysis plan upon request after publication of the results. https://publications.aap.org/pediatrics/article/108/5/e92/63709/The-Changing-Purpose-of-Prader-Willi-Syndrome, http://www.ncbi.nlm.nih.gov/books/NBK1330, https://pubmed.ncbi.nlm.nih.gov/29271568/, Spotlight: Food for Health: Nutrition Research across the Lifespan, Experimental therapy for Prader-Willi syndrome shows promise in mice, National Child & Maternal Health Education Program, Extremely weak muscles in the body's torso, Difficulty sucking, which improves after the first few months, Feeding difficulties and/or failure to grow, requiring feeding assistance, such as feeding tubes or special nipples to aid in sucking, Beginning of rapid weight gain, between ages 1 and 6, resulting in severe obesity, Specific facial features, including narrow forehead and downturned mouth, Reduced development of the genital organs, including small genitalia (vaginal lips and clitoris in females and small scrotum and penis in males); incomplete and delayed puberty; infertility, Developmental delays, mild-to-moderate intellectual disability, multiple learning disabilities, Decreased movement and noticeable fatigue during infancy, Behavioral problems-specifically, temper tantrums, obsessive-compulsive behavior, stubbornness, rigidity, stealing, and lying (especially related to food), Sleep problems, including daytime sleepiness and sleep disruption, Short stature, compared with other members of the family, noticeable by age 15, Small hands and feet in comparison to standards for height and age, Nearsightedness and/or difficulty focusing both eyes at the same time, Earlier-than-usual activity in the adrenal glands, which can lead to early puberty, Especially brittle bones (called osteoporosis). Infants with PWS have severe hypotonia (low muscle tone), feeding difficulties, and slow The risk of occurrence in siblings of patients with Prader-Willi syndrome depends on what caused the disorder to occur.2. GeneReviews[internet] Seattle (WA): University of Washington, Seattle; 1993. Terms of Service apply. The https:// ensures that you are connecting to the Higher maternal age may be a risk factor of PWS, especially for UPD. There's no cure, but if you have a child with PWS, you can help them stay at a healthy weight, have a good quality of life, and prevent health problems down the road. 2005 - 2023 WebMD LLC. People who have PWS usually aren't able to have children. Thank you for taking time to provide your feedback to the editors. Bookshelf Morgan JR, Storch EA, Woods DW, Bodzin D, Lewin AB, Murphy TK. Behavioral problems are common, including temper outbursts, An official website of the United States government. Prader-Willi syndrome is caused by genetic changes on an "unstable" region of chromosome 15 that affects the regulation of gene expression, or how genes turn on and off. strong preoccupation with food, which makes it hard for children to concentrate on other things, unusual behaviour related to food for example, hoarding food, high sensitivity to stress, which makes it hard for children to cope with things like changes to routine, difficulty telling the difference between real things and made-up things, undetected infections or injuries because of their high pain tolerance, a higher risk of choking because of their inability to vomit, tasks that involve visual-spatial skills, like solving jigsaw puzzles, decoding letter patterns and word recognition. Please enable it to take advantage of the complete set of features! Although Prader-Willi syndrome is genetic, it usually is not inherited and generally develops due to deletions or partial deletions on chromosome 15. -, Bar C, Diene G, Molinas C, Bieth E, Casper C, Tauber M. Early diagnosis and care is achieved but should be improved in infants with Prader-Willi syndrome. J Clin Endocrinol Metab 2008;93(11):41834197. Web68011218 - MeSH Result. 2018 Dec;95:396-405. doi: 10.1016/j.neubiorev.2018.10.006. They have feeding difficulties because their low muscle tone makes it hard for them to suck. Expert Rev Mol Med. Early intervention can improve outcomes for children with Prader-Willi. How do healthcare providers diagnose PWS? The overall objective is to measure the effect of growth hormone treatment (GHt) on physical and psychosocial health in adults of 30 years or older with Prader-Willi syndrome (PWS). It stems from a problem with one of your chromosomes (a strand of DNA that Neurosci Biobehav Rev. . Genetic testing must confirm the Prader-Willi syndrome diagnosis. Physical characteristics Children with Prader-Willi syndrome are typically floppy when theyre newborns. Scoliosis can be present at birth or can develop during adolescence. Journal of the American Academy of Child & Adolescent Psychiatry, 38(6), 761769. 2020 Sep;22(9):1001-1006. doi: 10.7499/j.issn.1008-8830.2003344. Before age 3, the most important symptom is extremely poor muscle tone, called hypotonia, which makes infants feel floppy. Zhongguo Dang Dai Er Ke Za Zhi. Methods: This study included the patients of a PWS Bethesda, MD 20894, Web Policies Please confirm that you are not located inside the Russian Federation. Keywords: Use for phrases What are the symptoms of Prader-Willi syndrome? Please enable it to take advantage of the complete set of features! However, we do not guarantee individual replies due to the high volume of messages. Newborns with the defect feel limp, feed poorly, and gain weight slowly. Please remove one or more studies before adding more. This study included 134 patients with PWS (115 patients with 15q11-q13 deletion and 19 with maternal uniparental disomy). Some children have a read more ). Boys have undescended testes Undescended testes Undescended testes (cryptorchidism) are testes that remain in the abdomen or the groin instead of descending into the scrotum. Driscoll DJ, Miller JL, Schwartz S, Cassidy SB. Orphanet J Rare Dis. 88.6% of mothers reported a decrease of fetal movements. Science X Daily and the Weekly Email Newsletter are free features that allow you to receive your favorite sci-tech news updates in your email inbox, Waking 'sleeping genes' could help Prader-Willi syndrome, Survey-based study suggests abstinence reboot interventions result in increased mental problems, Artificially speeding up a mouse's heart rate found to increase anxiety symptoms, Study unveils mechanism regulating the transmission of a protein associated with the progression of Parkinson's disease, How gut bacteria can impact treatments for cancer, Human feces and urine contain a motherlode of health data: 'Smart toilets' detect daily fluctuations, serious disease. Driscoll DJ, Miller JL, Schwartz S, Cassidy SB. or, by Trinity College Dublin. Background: Prader-Willi syndrome (PWS) is a rare and complex genetic disorder caused by lacking expression of imprinted genes on the paternally derived chromosome 15q11-q13 region. How do healthcare providers diagnose Prader-Willi syndrome (PWS)? (See also Overview of Bone Disorders in Children.) Obsessive-Compulsive Disorder (OCD) and Related Disorders in Children and Adolescents. Support for people with Prader-Willi syndrome and their families is available from the Prader-Willi Syndrome Association of Australia website. It is caused by missing genes on chromosome 15. It affects a part of their brain called the hypothalamus -- this is what tells you you're full when you eat enough food. WebIn this case, when the paternal contribution is lost, the result is a condition known as Prader-Willi syndrome (PWS).
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