A five-year-old girl with Angelman syndrome. Features shown include telecanthus, bilateral epicanthic folds, small head, wide mouth, and an apparently happy demeanor; hands with tapered fingers, abnormal creases and broad thumbs.
↑ Angelman syndrome, as excerpted from the Oxford English Dictionary by Lexico.com
↑ Angelman syndrome in the Merriam-Webster.com Medical Dictionary
Winter, Robin M.; Baraitser, Michael (2013). Multiple Congenital Anomalies: A Diagnostic Compendium. Springer. p. 34. ISBN9781489931092. จากแหล่งเดิมเมื่อ 2017-11-05.
Angelman syndrome in the McGraw-Hill Dictionary of Scientific & Technical Terms
↑ Angelman syndrome in the American Heritage Medical Dictionary
Angelman syndrome in Comprehensive Developmental Neuroscience: Neural Circuit Development and Function in the Heathy and Diseased Brain: Chapter 32.
"Common Misdiagnoses | FAST". FAST (Foundation for Angelman Syndrome Therapeutics). สืบค้นเมื่อ 10 October 2019.
Angelman, Harvey (1965). "'Puppet' Children: A report of three cases". Dev Med Child Neurol. 7: 681–688. doi:10.1111/j.1469-8749.1965.tb07844.x.
"The history of medicine is full of interesting stories about the discovery of illnesses. The saga of Angelman's syndrome is one such story. It was purely by chance that nearly thirty years ago (e.g., circa 1964) three handicapped children were admitted at various times to my children's ward in England. They had a variety of disabilities and although at first sight they seemed to be suffering from different conditions I felt that there was a common cause for their illness. The diagnosis was purely a clinical one because in spite of technical investigations which today are more refined I was unable to establish scientific proof that the three children all had the same handicap. In view of this I hesitated to write about them in the medical journals. However, when on holiday in Italy I happened to see an oil painting in the Castelvecchio Museum in Verona called . . . a Boy with a Puppet. The boy's laughing face and the fact that my patients exhibited jerky movements gave me the idea of writing an article about the three children with a title of Puppet Children. It was not a name that pleased all parents but it served as a means of combining the three little patients into a single group. Later the name was changed to Angelman syndrome. This article was published in 1965 and after some initial interest lay almost forgotten until the early eighties.", Dr. Williams, Charles. Facts about Angelman Syndrome[ลิงก์เสีย], Angelman Syndrome Foundation (USA). 1991. Accessed 2008-12-18.
แหล่งข้อมูลอื่น
Angelman Syndrome Foundation USA
Angelman Syndrome Association AUS
Angelman Syndrome Support Education & Research Trust - UK
กล, มอาการแองเกลแมน, งกฤษ, angelman, syndrome, เป, นโรคพ, นธ, กรรมเก, ยวก, บระบบประสาท, กษณะเฉพาะค, อผ, วยจะม, ความบกพร, องทางสต, ญญาและพ, ฒนาการ, การนอนหล, บม, ญหา, อาการช, การเคล, อนไหวผ, ดปกต, วเราะหร, อย, มบ, อย, แลด, ความส, ขผ, ดปกต, angelman, syndrome, อ. klumxakaraexngeklaemn xngkvs Angelman syndrome AS epnorkhphnthukrrmekiywkbrabbprasath milksnaechphaakhuxphupwycamikhwambkphrxngthangstipyyaaelaphthnakar karnxnhlbmipyha mixakarchk mikarekhluxnihwphidpkti hweraahruxyimbxy aeldumikhwamsukhphidpktiklumxakaraexngeklaemn Angelman syndrome chuxxunAngelman s syndrome 1 2 happy puppet syndrome 3 A five year old girl with Angelman syndrome Features shown include telecanthus bilateral epicanthic folds small head wide mouth and an apparently happy demeanor hands with tapered fingers abnormal creases and broad thumbs karxxkesiyng ˈ ae ŋ ɡ e l m e n 4 1 ˈ ae n dʒ el m e n 2 5 or ˈ eɪ n dʒ el m e n 2 5 6 sakhawichaMedical geneticsxakarDelayed development unusually happy intellectual disability limited to no functional speech balance and movement problems small head seizures 7 kartngtnNoticeable by 6 12 months 7 saehtuGenetic new mutation 7 withiwinicchyBased on symptoms genetic testing 8 orkhxunthikhlayknCerebral palsy autism Rett Syndrome Prader Willi syndrome 8 9 karrksaSupportive care 8 phyakrnorkhNearly normal life expectancy 7 khwamchuk1 in 12 000 to 20 000 people 7 klumxakaraexngeklaemnepntwxyangthiniymichthwipkhxngkrabwnkarprathbtrathangphnthukrrm genomic imprinting sungmkekidcakkarhludhay deletion hruxkarybyngkarthangankhxngyinbnokhromosm 15 thiidrbmacakaem inkhnathiyinbnokhromosm 15 xikaethnghnungsungidrbmacakphxnnthuk prathbtra imprint iwthaihimmikarthangan klumxakarxikxyanghnungsungmikhwamsmphnthiklchidkneriykwaklumxakarphraedxr willi ekidcakkarhayipkhxngyinintaaehnngediywknsungidrbmacakphx odyyinkhxngfngaemthimixyuthukprathbtraiwchuxedimkhxngklumxakaraexngeklaemnkhuxklumxakaraehppiphphephth happy puppet syndrome klumxakar hunkrabxkthimikhwamsukh sungmkthukthuxwaepnkarichchuxthiimsuphaph epnmlthinkbphupwy cnpccubnklayepnchuximidrbkaryxmrbbangkhrngphupwyklumxakaraexngeklaemnxacthukeriykwa aexngecl angels nangfa ethwda swnhnungmacakchuxorkhaelalksnaphaynxkthidumikhwamsukhtlxdewlaprawti aekikh phaph Boy with a Puppet hrux A child with a drawing ody Giovanni Francesco Caroto aehrri aexngeklaemn Dr Harry Angelman sungepnkumaraephthyxyuin Warrington idraynganphupwyedksamraythimiphawaechnniiwinpi kh s 1965 10 sunginphayhlngaexngeklaemnidklawwaideluxkichkhawa Puppet children edkhun ephuxxthibaykrniphupwyehlaniwamithimacakphaphsinamnthiekhaidehnkhnaipphkphxninxitali prawtisastrkaraephthynnetmipdwyeruxngrawthinasnicekiywkbkarkhnphborkhphytang eruxngrawwadwyklumxakaraexngeklaemnnnkepnhnungineruxngrawechnnn thuxepneruxngbngexiyodyaeththiemuxsamsibpikxn pramanpi kh s 1964 miedkbkphrxngthangstipyyasamkhnthitxngidrbiwrksainorngphyabalhlaykhrnginhxphupwyedkkhxngkhaphecainxngkvs phwkekhamikhwambkphrxnghlayxyang sungaemmxngephiyngephinxackhidwaepnphawakhnlaphawakn khaphecaklbrusukwaxakarpwykhxngedkehlanimisaehturwmkn karihkarwinicchynnthacakphunthanthangkhlinikephiyngxyangediywenuxngcakaemthukwnniethkhnikhkartrwcthanghxngptibtikarcaidrbkarphthnaipmakaetintxnnnkhaphecakimsamarthsrangkhxsruphlkthanthiepnwithyasastridwaedkthngsamkhnmikhwamphidpktixyangediywkn dwyehtuechnniexngkhaphecacunglngelthicaekhiynbthkhwamraynganlnginwarsarkaraephthy xyangirkdi emuxkhrngthikhaphecaidipphkphxninxitali khaphecabngexiyidehnphaphsinamnphaphhnunginphiphithphnth Castelvecchio in Verona chuxwa edkchaykbhunkrabxk ibhnathiyimaeymkhxngedkchayinphaphrwmkbkhxethccringthiwaphupwyedkthngsamkhxngkhaphecamikarekhluxnihwphidpktithaihkhaphecamikhwamkhidthicaekhiynbthkhwamekiywkbphupwythngsamphayithweruxngwaedkhunkrabxk chuxnithaihehlaphxaemthnghlayimphxic aetkepnwithihnungthicarwmexaphupwynxy thngsam iwepnhmwdepnklumediywknid txmachuxnikthukepliynepnklumxakaraexngeklaemn bthkhwamniidrbkartiphimphinpi kh s 1965 aelahlngcakthiidrbkhwamsnicelknxyinchwngaerkkthuklumeluxnipcnkrathngchwngtnthswrrs 1980 niexng Dr Charles Williams 11 xangxing aekikh 1 0 1 1 Angelman syndrome as excerpted from the Oxford English Dictionary by Lexico com 2 0 2 1 2 2 Angelman syndrome in the Merriam Webster com Medical Dictionary Winter Robin M Baraitser Michael 2013 Multiple Congenital Anomalies A Diagnostic Compendium Springer p 34 ISBN 9781489931092 ekb cakaehlngedimemux 2017 11 05 Angelman syndrome in the McGraw Hill Dictionary of Scientific amp Technical Terms 5 0 5 1 Angelman syndrome in the American Heritage Medical Dictionary Angelman syndrome in Comprehensive Developmental Neuroscience Neural Circuit Development and Function in the Heathy and Diseased Brain Chapter 32 7 0 7 1 7 2 7 3 7 4 xangxingphidphlad payrabu lt ref gt imthuktxng immikarkahndkhxkhwamsahrbxangxingchux GHR2015 8 0 8 1 8 2 xangxingphidphlad payrabu lt ref gt imthuktxng immikarkahndkhxkhwamsahrbxangxingchux NORD2015 Common Misdiagnoses FAST FAST Foundation for Angelman Syndrome Therapeutics subkhnemux 10 October 2019 Angelman Harvey 1965 Puppet Children A report of three cases Dev Med Child Neurol 7 681 688 doi 10 1111 j 1469 8749 1965 tb07844 x The history of medicine is full of interesting stories about the discovery of illnesses The saga of Angelman s syndrome is one such story It was purely by chance that nearly thirty years ago e g circa 1964 three handicapped children were admitted at various times to my children s ward in England They had a variety of disabilities and although at first sight they seemed to be suffering from different conditions I felt that there was a common cause for their illness The diagnosis was purely a clinical one because in spite of technical investigations which today are more refined I was unable to establish scientific proof that the three children all had the same handicap In view of this I hesitated to write about them in the medical journals However when on holiday in Italy I happened to see an oil painting in the Castelvecchio Museum in Verona called a Boy with a Puppet The boy s laughing face and the fact that my patients exhibited jerky movements gave me the idea of writing an article about the three children with a title of Puppet Children It was not a name that pleased all parents but it served as a means of combining the three little patients into a single group Later the name was changed to Angelman syndrome This article was published in 1965 and after some initial interest lay almost forgotten until the early eighties Dr Williams Charles Facts about Angelman Syndrome lingkesiy Angelman Syndrome Foundation USA 1991 Accessed 2008 12 18 aehlngkhxmulxun aekikhAngelman Syndrome Foundation USA Angelman Syndrome Association AUS Angelman Syndrome Support Education amp Research Trust UK klumxakaraexngeklaemn thiewbist Curlie Angelman syndrome in NIH UW GeneTests Foundation for Angelman Syndrome TherapeuticskarcaaenkorkhV T DICD 10 Q93 5ICD 9 CM 759 89OMIM 105830MeSH D017204DiseasesDB 712thrphyakrphaynxkMedlinePlus 007616GeneReviews Angelman SyndromeOrphanet 72 bthkhwamekiywkbaephthysastrniyngepnokhrng khunsamarthchwywikiphiediyidodyephimkhxmul duephimthi sthaniyxy aephthysastrekhathungcak https th wikipedia org w index php title klumxakaraexngeklaemn amp oldid 9613294, wikipedia, วิกิ หนังสือ, หนังสือ, ห้องสมุด,
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