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Mikrocefali ya vid grec mikros malenkij i kefalh golova medichnij stan pri yakomu golovnij mozok ne rozvivayetsya nalezhnim chinom vnaslidok chogo rozmir golovi ye menshim vid normalnogo 1 Mikrocefaliya mozhe buti vrodzhenoyu abo rozvinutisya v pershi kilka rokiv zhittya 1 Na sogodni nemaye dostovirnih testiv za dopomogoyu yakih mozhna bulo b zazdalegid viyaviti cyu patologiyu ale ultrazvukove doslidzhennya mozku ploda v tretomu trimestri vagitnosti inodi mozhe viyaviti cyu problemu 2 MikrocefaliyaDitina z mikrocefaliyeyu zliva porivnyano z ditinoyu z tipovim rozmirom goloviDitina z mikrocefaliyeyu zliva porivnyano z ditinoyu z tipovim rozmirom goloviSpecialnist medichna genetika psihologiya nejrologiyaPochatok mozhe buti vrodzhenoyu abo rozvivatisya v pershi roki zhittyaTrivalist use zhittyaPrichini genetichni mutaciyi deyaki infekcijni zahvoryuvannya otrujni rechovini vnutrishnoutrobni travmi toshoChastota u serednomu 1 vipadok na 6 8 tisyach narodzhenKlasifikaciya ta zovnishni resursiMKH 11 LA05 0OMIM 251200DiseasesDB 22629MeSH D008831 Microcephaly u VikishovishiMikrocefaliya suprovodzhuyetsya rozumovoyu nedostatnistyu vid nerizko virazhenoyi imbecilnosti do idiotiyi Lyudi z mikrocefaliyeyu chasto mayut znizhenu ruhovu funkciyu pogano rozmovlyayut Mikrocefaliya mozhe suprovodzhuvatisya anomalnimi risami oblichchya sudomami ta karlikovistyu Sposterigayetsya mikrocefaliya ridko v serednomu 1 vipadok na 6 8 tisyach narodzhen 1 3 Viznachayut mikrocefaliyu vimiryuvannyam okruzhnosti golovi i yaksho vona na dva standartnih vidhilennya mensha vid okruzhnosti serednoyi dlya danogo viku ta stati ce svidchit pro mikrocefaliyu 4 5 hocha deyaki naukovci vvazhayut sho okruzhnist golovi maye buti na tri standartnih vidhilennya menshoyu vid serednoyi dlya danogo viku ta stati 6 Nemovlyata z mikrocefaliyeyu narodzhuyutsya z normalnim abo zi zmenshenim rozmirom golovi 7 Zgodom golova ne roste a oblichchya rozvivayetsya zi zvichajnoyu shvidkistyu tomu ditina maye malenku golovu z vistupayuchim lobom a takozh puhkoyu chasto zmorshenoyu shkiroyu golovi 8 U miru doroslishannya chasto pochinayut proyavlyatisya nedostatnya vaga ta karlikovist 7 Rozvitok ruhovih funkcij ta movi mozhe zatrimuvatisya Giperaktivnist ta intelektualna nedostatnist ye zagalnimi yavishami hocha yih stupin riznitsya Poshirenimi ye sudomi Ruhova zdatnist variyuyetsya pochinayuchi nezgrabnosti v odnih i zakinchuyuchi spastichnoyu kvadriplegiyeyu v inshih 9 Zmist 1 Prichini mikrocefaliyi 1 1 Mikrocefaliya sho rozvivayetsya v prenatalnij period 1 2 Mikrocefaliya sho rozvivayetsya v postnatalnij period 2 Likuvannya 3 Div takozh 4 Primitki 5 PosilannyaPrichini mikrocefaliyi RedaguvatiYak pravilo mikrocefaliya obumovlena zmenshennyam rozmiru lyudskogo mozku zokrema kori golovnogo mozku i cej stan mozhe viniknuti pid chas embrionalnogo ta vnutrishnoutrobnogo rozvitku cherez nedostatnyu proliferaciyu klitin abo zagibel nervovih stovburovih klitin chi nejroniv porushennya nejrogenezu abo jogo peredchasnist mozhlive i poyednannya cih faktoriv 10 Mikrocefaliyu chasto sprichiyuye porushennya formuvannya golovnogo mozku na rannih stadiyah vagitnosti vnaslidok gennih hromosomnih i genomnih mutacij diyi radiaciyi alkogolyu deyakih likiv vnutrishnoutrobnih infekcij takih yak krasnuha citomegalovirusna infekciya toksoplazmoz sifilis ta jmovirno hvoroba yaku sprichinyuye virus Zika 1 11 U bagatoh vipadkah prichinu viyaviti ne vdayetsya 12 Mikrocefaliya sho rozvivayetsya v prenatalnij period Redaguvati nbsp Mikrocefaliya Porivnyannya MRT zdorovoyi lyudini livoruch i hvorogo na mikrocefaliyu cherez genetichnu mutaciyu1 Izolovana Simejna autosomno recesivna mikrocefaliya 13 Avtosomno dominantna mikrocefaliya 14 15 H pov yazana mikrocefaliya 2 Pov yazana z genomnimi mutaciyami zokrema Trisomiya po 21 pari hromosom sindrom Dauna Trisomiya po 18 pari hromosom sindrom Edvardsa Trisomiya po 13 pari hromosom sindrom Patau 3 Pov yazana z hromosomnimi mutaciyami deleciyi geniv zokrema Sindrom kotyachogo kriku Deleciya 5p Deleciya 4r Sindrom Volfa Girshhorna Deleciya 22q11 Sindrom Di Georga Deleciya 7q11 23 sindrom Vilyamsa Sindrom Pradera Villi tosho 4 Pov yazana z gennimi mutaciyami zokrema Sindrom Smita Lemli Opica Sindrom Sekkelya Sindrom Korneliyi de Lange Goloprozencefaliya Pervinna mikrocefaliya 4 16 Sindrom Videmana Shtejnera5 Sprichinena deyakimi hvorobami takimi yak Ishemichnij insult 17 Gemoragichnij insult 17 Smert monozigotnogo bliznyuka6 Sprichinena infekciyami sho peredayutsya vertikalno takimi yak Vrodzhena citomegalovirusna infekciya 18 Toksoplazmoz 18 Krasnuha 18 Vitryana vispa 19 Kir Hvoroba yaku sprichinyuye virus Zika7 Zumovlena diyeyu toksichnih rechovin takih yak etanol fetalnij alkogolnij sindrom 8 Pov yazana zi stanom zdorov ya materi mozhe rozvivatisya vnaslidok Diyi radiacijnogo oprominennya na organizm materi Nedoyidannya materi 18 Materinskoyi fenilketonuriyi 18 Pogano kontrolovanogo gestacijnogo cukrovogo diabetu Garyachki Gipotireozu u materi9 Takozh mozhe vinikati vnaslidok Placentarnoyi nedostatnosti KraniosinostozuMikrocefaliya sho rozvivayetsya v postnatalnij period Redaguvati 1 Pov yazana z deleciyeyu gena sindrom Millera Dikera 17p13 3 deleciya 2 Pov yazana z gennimi mutaciyami takimi yak Sindrom Retta perevazhno u divchat Sindrom Nejmegena H pov yazana lisencefaliya z anomalnimi statevimi organami Sindrom Ajkardi Gutyera Ataksiya teleangiektaziyi Sindrom Koena Sindrom Kokejna3 Sprichinena vrodzhenimi porushennyami obminu rechovin takimi yak porushennya glikozilyuvannya 20 mitohondrialni 21 ta peroksisomni rozladi 22 defekti transportera glyukozi 23 hvoroba Menkesa porushennya obminu aminokislot 24 organichna acidemiya 4 Pov yazana z poshkodzhennyami sprichinenimi zokrema Cherepno mozkovimi travmami 25 Gipoksichno ishemichnoyu encefalopatiyeyu 18 Ishemichnim insultom 17 Gemoragichnim insultom5 Sprichinena infekcijnimi hvorobami takimi yak Vrodzhena VIL encefalopatiya 26 Meningit 27 Encefalit 28 Meningoencefalit6 Sprichinena hronichnoyu nirkovoyu nedostatnostyu 7 Obumovlena deprivaciyeyu vnaslidok Gipotireozu 29 Anemiyi 30 Vrodzhenoyi vadi sercya abo sukupnistyu vad 31 Nedoyidannya 32 nbsp Mati yaka trimaye svogo sina yakij narodivsya z mikrocefaliyeyu imovirno cherez vertikalno peredanu virusu ZikaPochinayuchi z 2015 roku v sviti sposterigali zbilshennya kilkosti narodzhuvanih z sindromom mikrocefaliyi u deyakih regionah zokrema v Braziliyi Kolumbiyi tosho sho pov yazuyut iz zarazhennyam vagitnih zhinok hvoroboyu yaku sprichinyuye virus Zika Vvazhayut sho virus u takij situaciyi zdatnij z organizmu zarazhenoyi potrapiti cherez placentu u ploda i sprichiniti zmenshennya rozmiriv samogo mozku ta cherepa 33 Zv yazok ciyeyi hvorobi z mikrocefaliyeyu u novonarodzhenih yaki narodilisya vid infikovanih materiv vvazhayut najimovirnishim 34 pro ce svidchat rezultati roztinu okremih pomerlih ditej z yavishami mikrocefaliya 35 36 prote fahivci z borotbi z poshirennyam infekcijnih hvorob zasterigayut poki sho vid visnovkiv pro absolyutnij zv yazok i nagoloshuyut na neobhidnosti provoditi podalshi vseosyazhni gruntovni kompleksni doslidzhennya Likuvannya Redaguvati nbsp Ditina z mikrocefaliyeyu pid chas seansu fizichnoyi reabilitaciyiSpecialnogo likuvannya mikrocefaliyi ne isnuye Likuvannya spryamovane na zmenshennya vinikayuchih proyaviv i ye situativnim Div takozh RedaguvatiMakrocefaliya Gidrocefaliya Anencefaliya LisencefaliyaPrimitki Redaguvati a b v g NINDS Microcephaly Information Page NINDS 30 chervnya 2015 Arhiv originalu za 11 bereznya 2016 Procitovano 11 bereznya 2016 WHO Media centre Microcephaly Fact sheet Updated 2 March 2016 1 Arhivovano 3 bereznya 2016 u Wayback Machine Microcephaly in Children Arhivovano 25 sichnya 2016 u Wayback Machine Cleveland Clinic Leviton A Holmes L B Allred E N Vargas J 2002 Methodologic issues in epidemiologic studies of congenital microcephaly Early Hum Dev 69 1 91 105 PMID 12324187 doi 10 1016 S0378 3782 02 00065 8 Opitz J M Holt M C 1990 Microcephaly general considerations and aids to nosology J Craniofac Genet Dev Biol 10 2 75 204 PMID 2211965 Behrman R E Kligman R M Jensen H B 2000 Nelson s Textbook of Pediatrics vid 16th Philadelphia WB Saunders ISBN 978 0721677675 a b default Stanford Children s Health www stanfordchildrens org Arhiv originalu za 30 zhovtnya 2020 Procitovano 2 serpnya 2019 Cephalic Disorders Fact Sheet National Institute of Neurological Disorders and Stroke www ninds nih gov Arhiv originalu za 26 veresnya 2020 Procitovano 2 serpnya 2019 Microcephaly with Spastic Quadriplegia disease Malacards Research Articles Drugs Genes Clinical Trials www malacards org Arhiv originalu za 7 travnya 2021 Procitovano 2 serpnya 2019 Jamuar SS Walsh CA June 2015 Genomic variants and variations in malformations of cortical development Pediatric Clinics of North America 62 3 571 85 PMC 4449454 PMID 26022163 doi 10 1016 j pcl 2015 03 002 Faheem Muhammad Naseer Muhammad Imran Rasool Mahmood Chaudhary Adeel G Kumosani Taha A Ilyas Asad Muhammad Pushparaj Peter Natesan Ahmed Farid ta in 15 sichnya 2015 Molecular genetics of human primary microcephaly an overview BMC Medical Genomics 8 Suppl 1 S4 ISSN 1755 8794 PMC 4315316 PMID 25951892 doi 10 1186 1755 8794 8 S1 S4 rekomenduyetsya displayauthors dovidka CDC 7 grudnya 2016 Facts about Microcephaly Birth Defects NCBDDD CDC Centers for Disease Control and Prevention Arhiv originalu za 2 zhovtnya 2020 Procitovano 30 lipnya 2019 Microcephaly in Children Microcephaly in Children Arhiv originalu za 16 listopada 2020 https web archive org web 20201116013239 https www urmc rochester edu encyclopedia content aspx ContentTypeID 90 amp ContentID P02610 Procitovano 2019 07 30 Microcephaly autosomal dominant Genetic and Rare Diseases Information Center Arhiv originalu za 21 veresnya 2020 Procitovano 30 lipnya 2019 OMIM Entry 617520 MICROCEPHALY 18 PRIMARY AUTOSOMAL DOMINANT MCPH18 www omim org Arhiv originalu za 8 bereznya 2021 Procitovano 30 lipnya 2019 Szczepanski Sandra Hussain Muhammad Sajid Sur Ilknur Altmuller Janine Thiele Holger Abdullah Uzma Waseem Syeda Seema Moawia Abubakar ta in 30 listopada 2015 A novel homozygous splicing mutation of CASC5 causes primary microcephaly in a large Pakistani family Human Genetics 135 2 157 170 PMID 26621532 doi 10 1007 s00439 015 1619 5 rekomenduyetsya displayauthors dovidka a b v Microcephaly in infants and children Etiology and evaluation UpToDate Arhiv originalu za 31 zhovtnya 2020 Procitovano 2 serpnya 2019 a b v g d e Microcephaly Symptoms and causes Mayo Clinic Arhiv originalu za 11 listopada 2020 Procitovano 30 lipnya 2019 Vrodzhenij sindrom vitryanoyi vispi Arhiv originalu za 2 lipnya 2020 Procitovano 1 zhovtnya 2020 Congenital Disorders of Glycosylation NORD National Organization for Rare Disorders Arhiv originalu za 26 veresnya 2020 Procitovano 1 serpnya 2019 Mito Info Mito Foundation Arhiv originalu za 1 serpnya 2019 Procitovano 1 serpnya 2019 Zellweger syndrome Orphanet Arhiv originalu za 1 listopada 2020 Procitovano 1 serpnya 2019 Reference Genetics Home GLUT1 deficiency syndrome Genetics Home Reference Arhiv originalu za 26 sichnya 2018 Procitovano 1 serpnya 2019 Maternal phenylketonuria Orphanet Arhiv originalu za 12 listopada 2020 Procitovano 1 serpnya 2019 Joyce Tina Huecker Martin R 2019 Pediatric Abusive Head Trauma Shaken Baby Syndrome National Center for Biotechnology Information AU S National Library of Medicine PMID 29763011 Arhiv originalu za 29 serpnya 2020 Procitovano 30 lipnya 2019 Donald Kirsten A Walker Kathleen G Kilborn Tracy Carrara Henri Langerak Nelleke G Eley Brian Wilmshurst Jo M 2015 HIV Encephalopathy pediatric case series description and insights from the clinic coalface AIDS Research and Therapy 12 1 2 ISSN 1742 6405 PMC 4297380 PMID 25598835 doi 10 1186 s12981 014 0042 7 Tibussek Daniel Sinclair Adriane Yau Ivanna Teatero Sarah Fittipaldi Nahuel Richardson Susan E Mayatepek Ertan Jahn Peter ta in 2015 Late Onset Group B Streptococcal Meningitis Has Cerebrovascular Complications The Journal of Pediatrics 166 5 1187 1192 e1 PMID 25919727 doi 10 1016 j jpeds 2015 02 014 rekomenduyetsya displayauthors dovidka Ramos Regina Viana Rafaela Brainer Lima Alessandra Florencio Telma Carvalho Maria Durce van Der Linden Vanessa Amorim Antonio Rocha Maria Angela ta in 2017 Perinatal Chikungunya Virus Associated Encephalitis Leading to Postnatal Onset Microcephaly and Optic Atrophy The Pediatric Infectious Disease Journal 37 1 94 95 ISSN 0891 3668 PMID 28737626 doi 10 1097 INF 0000000000001690 rekomenduyetsya displayauthors dovidka Kurian Manju A Jungbluth Heinz July 2014 Genetic disorders of thyroid metabolism and brain development Developmental Medicine and Child Neurology 56 7 627 634 ISSN 0012 1622 PMC 4231219 PMID 24665922 doi 10 1111 dmcn 12445 Reference Genetics Home Fanconi anemia Genetics Home Reference Arhiv originalu za 27 veresnya 2020 Procitovano 2 serpnya 2019 Damlich Jennifer Qato Roa Cruz Meredith Colon Maria Wilkins Isabelle 1 lipnya 2009 Discussion Microcephaly associated with congenital heart defect by Barbu et al American Journal of Obstetrics amp Gynecology English 201 1 e7 e12 ISSN 0002 9378 PMID 19576365 doi 10 1016 j ajog 2009 05 042 Facts about Microcephaly Centers for Disease Control and Prevention 7 grudnya 2016 Arhiv originalu za 2 zhovtnya 2020 Procitovano 2 serpnya 2019 Microcephaly www who int angl Arhiv originalu za 18 zhovtnya 2020 Procitovano 1 zhovtnya 2020 News amp Events European Centre for Disease Prevention and Control www ecdc europa eu Arhiv originalu za 17 kvitnya 2021 Procitovano 1 zhovtnya 2020 Rubin Eric J Greene Michael F Baden Lindsey R 10 bereznya 2016 Zika Virus and Microcephaly New England Journal of Medicine angl 374 10 s 984 985 ISSN 0028 4793 doi 10 1056 NEJMe1601862 Arhiv originalu za 30 kvitnya 2020 Procitovano 1 zhovtnya 2020 Mlakar Jernej Korva Misa Tul Natasa Popovic Mara Poljsak Prijatelj Mateja Mraz Jerica Kolenc Marko Resman Rus 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