@prefix dbo: .
@prefix dbr: .
dbr:Craniofacial_regeneration dbo:wikiPageWikiLink dbr:Crouzon_syndrome .
dbo:wikiPageWikiLink dbr:Crouzon_syndrome ;
dbo:wikiPageRedirects dbr:Crouzon_syndrome .
dbr:List_of_genetic_disorders dbo:wikiPageWikiLink dbr:Crouzon_syndrome .
dbr:Megalocornea dbo:wikiPageWikiLink dbr:Crouzon_syndrome .
@prefix foaf: .
@prefix wikipedia-en: .
wikipedia-en:Crouzon_syndrome foaf:primaryTopic dbr:Crouzon_syndrome .
dbr:Human_tooth dbo:wikiPageWikiLink dbr:Crouzon_syndrome .
dbr:Outer_ear dbo:wikiPageWikiLink dbr:Crouzon_syndrome .
dbr:Human_tooth_development dbo:wikiPageWikiLink dbr:Crouzon_syndrome .
dbr:List_of_skin_conditions dbo:wikiPageWikiLink dbr:Crouzon_syndrome .
dbr:Choanal_atresia dbo:wikiPageWikiLink dbr:Crouzon_syndrome .
dbo:wikiPageWikiLink dbr:Crouzon_syndrome .
dbr:Chromosome_10 dbo:wikiPageWikiLink dbr:Crouzon_syndrome .
dbo:wikiPageWikiLink dbr:Crouzon_syndrome .
dbr:Index_of_oral_health_and_dental_articles dbo:wikiPageWikiLink dbr:Crouzon_syndrome .
dbr:Ethylin_Wang_Jabs dbo:wikiPageWikiLink dbr:Crouzon_syndrome .
dbr:List_of_eponymous_diseases dbo:wikiPageWikiLink dbr:Crouzon_syndrome .
@prefix rdf: .
@prefix yago: .
dbr:Crouzon_syndrome rdf:type yago:Abnormality114501726 ,
yago:Attribute100024264 ,
yago:State100024720 ,
yago:PhysicalCondition114034177 ,
yago:Disease114070360 ,
yago:Illness114061805 ,
yago:Idea105833840 ,
yago:Content105809192 ,
yago:Disorder114052403 ,
yago:WikicatCellSurfaceReceptorDeficiencies ,
yago:IllHealth114052046 ,
dbo:Disease ,
yago:WikicatCongenitalDisordersOfMusculoskeletalSystem ,
yago:PathologicalState114051917 ,
yago:GeneticDisease114151139 ,
yago:WikicatSyndromes ,
yago:WikicatDentalDisorders ,
yago:WikicatGeneticDisorders ,
yago:Imperfection114462666 ,
yago:Concept105835747 ,
yago:Abstraction100002137 ,
yago:Syndrome105870790 ,
yago:Need114449126 ,
yago:Lack114449405 ,
yago:BirthDefect114465048 ,
yago:Cognition100023271 ,
yago:Whole105869584 ,
yago:Anomaly114505821 ,
yago:PsychologicalFeature100023100 .
@prefix wikidata: .
dbr:Crouzon_syndrome rdf:type wikidata:Q12136 ,
yago:WikicatCongenitalDisorders ,
yago:Defect114464005 ,
yago:Condition113920835 ,
yago:Complex105870365 .
@prefix umbel-rc: .
dbr:Crouzon_syndrome rdf:type umbel-rc:AilmentCondition .
@prefix owl: .
dbr:Crouzon_syndrome rdf:type owl:Thing .
@prefix rdfs: .
dbr:Crouzon_syndrome rdfs:label "Crouzon-Syndrom"@de ,
"Crouzon\u016Fv syndrom"@cs ,
"\uD06C\uB8E8\uC874 \uC99D\uD6C4\uAD70"@ko ,
"S\u00EDndrome de Crouzon"@pt ,
"Syndrome de Crouzon"@fr ,
"\u514B\u9B6F\u677E\u6C0F\u75C7\u5019\u7FA4"@zh ,
"Sindrome di Crouzon"@it ,
"Sindrom Crouzon"@in ,
"S\u00EDndrome de Crouzon"@es ,
"Zesp\u00F3\u0142 Crouzona"@pl ,
"Syndroom van Crouzon"@nl ,
"Crouzon syndrome"@en ,
"\u0645\u062A\u0644\u0627\u0632\u0645\u0629 \u0643\u0631\u0648\u0632\u0646"@ar ;
rdfs:comment "\u514B\u9B6F\u677E\u6C0F\u75C7\u5019\u7FA4\u662F\u7B2C\u5341\u865F\u53CA\u7B2C\u56DB\u865F\u67D3\u8272\u9AD4\u4E0A\u7684FGFR\u57FA\u56E0\u51FA\u73FE\u932F\u8AA4\u800C\u5F15\u81F4\u7684\u9AA8\u9ABC\u3001\u8EDF\u9AA8\u7684\u5F62\u6210\u7570\u5E38\u3002 \u5176\u767C\u751F\u7387\u70BA1/25000\u81F31/60000\u3002 \u907A\u50B3\u65B9\u9762\uFF0C\u5176\u907A\u50B3\u65B9\u5F0F\u70BA\u9EDE\u7A81\u8B8A\uFF0C\u4F8B\u5982C342Y\u3001Y340H\u3001S354C\u53CAFGFR3\u7684P250R\u7B49\u5E7E\u8655\u9EDE\u7A81\u8B8A\u3002"@zh ,
"Zesp\u00F3\u0142 Crouzona, inaczej dysostoza czaszkowo-twarzowa (\u0142ac. dysostosis craniofacialis, ang. Crouzon syndrome, Crouzon craniofacial dysostosis) \u2013 choroba genetyczna o najprawdopodobniej autosomalnym dominuj\u0105cym typie dziedziczenia."@pl ,
"Sindrom Crouzon merupakan penyakit autosomal dominan dengan gejala yang bervariasi yang disebabkan oleh pertumbuhan FGFR2 (Fibroblast Growth Factor Receptor 2) pada kromosom 10. Penyakit ini dikarakteristikkan dengan yang terlalu cepat menutup dan sutura basis kranial dan juga seperti halnya orbital dan maksila secara kompleks (craniosynostosis). Kranium tersusun atas beberapa tulang yang dipisahkan oleh . Sutura ini membuat kranium membesar dan berkembang bersamaan dengan perkembangan otak. Jika satu atau lebih sutura menutup lebih cepat, khususnya sebelum otak berkembang secara sempurna, maka kemungkinan perkembangan otak akan menekan kranium dan dapat mengakibatkan terbukanya sutura yang lain. Hal ini dapat menyebabkan ketidaknormalan bentuk kepala dan pada beberapa kasus dapat memper"@in ,
"\u0645\u062A\u0644\u0627\u0632\u0645\u0629 \u0643\u0631\u0648\u0632\u0648\u0646: (\u0628\u0627\u0644\u0625\u0646\u062C\u0644\u064A\u0632\u064A\u0629: Crouzon Syndrome)\u200F \u0647\u064A \u0627\u0636\u0637\u0631\u0627\u0628 \u0648\u0631\u0627\u062B\u064A \u062C\u0633\u062F\u064A \u0633\u0627\u0626\u062F \u064A\u0639\u0631\u0641 \u0628\u0627\u0633\u0645 \u0645\u062A\u0644\u0627\u0632\u0645\u0629 \u0627\u0644\u0642\u0648\u0633 \u0627\u0644\u062E\u064A\u0634\u0648\u0645\u064A. \u0628\u0627\u0644\u0623\u062E\u0635\u060C \u0647\u0630\u0647 \u0627\u0644\u0645\u062A\u0644\u0627\u0632\u0645\u0629 \u062A\u0624\u062B\u0631 \u0639\u0644\u0649 \u0627\u0644\u0642\u0648\u0633 \u0627\u0644\u062E\u064A\u0634\u0648\u0645\u064A \u0627\u0644\u0623\u0648\u0644 (\u0623\u0648 \u0627\u0644\u0628\u0644\u0639\u0648\u0645)\u060C \u0627\u0644\u0630\u064A \u064A\u0648\u062C\u062F \u0641\u064A \u0645\u0642\u062F\u0645\u0629 \u0627\u0644\u0641\u0643 \u0627\u0644\u0639\u0644\u0648\u064A \u0648\u0627\u0644\u0641\u0643 \u0627\u0644\u0633\u0641\u0644\u064A. \u0648\u0628\u0645\u0627 \u0623\u0646 \u0627\u0644\u0623\u0642\u0648\u0627\u0633 \u0627\u0644\u062E\u064A\u0634\u0648\u0645\u064A\u0629 \u0647\u064A \u0645\u0639\u0644\u0645 \u0646\u0645\u0648 \u0647\u0627\u0645 \u0641\u064A \u0639\u0645\u0644\u064A\u0629 \u0646\u0645\u0648 \u0627\u0644\u062C\u0646\u064A\u0646\u060C \u0641\u0625\u0646 \u0623\u064A \u0627\u0636\u0637\u0631\u0627\u0628\u0627\u062A \u0641\u064A \u062A\u0637\u0648\u0631\u0647\u0627 \u0644\u0647\u0627 \u062A\u0623\u062B\u064A\u0631\u0627\u062A \u0648\u0627\u0633\u0639\u0629 \u0627\u0644\u0646\u0637\u0627\u0642 \u0648\u062F\u0627\u0626\u0645\u0629. \u0627\u0636\u0637\u0631\u0627\u0628 \u0648\u0631\u0627\u062B\u064A \u0646\u0627\u062F\u0631 \u0633\u0628\u0628\u0647 \u062E\u0644\u0644 \u0641\u064A \u0627\u0644\u062C\u064A\u0646 FGFR2 gene \u0627\u0644\u0645\u0633\u0626\u0648\u0644 \u0639\u0646 \u0625\u0639\u0637\u0627\u0621 \u0627\u0644\u0623\u0648\u0627\u0645\u0631 \u0644\u0635\u0646\u0639 \u0627\u0644\u0628\u0631\u0648\u062A\u064A\u0646 \u0627\u0644\u0645\u0633\u0645\u0649\u060C 2 \u0648\u0627\u0644\u0630\u064A \u064A\u0644\u0639\u0628 \u062F\u0648\u0631 \u0645\u0647\u0645 \u0641\u064A \u0627\u0644\u0646\u0636\u062C \u0627\u0644\u0639\u0638\u0645\u064A \u0648\u062E\u0635\u0648\u0635\u0627 \u0623\u062B\u0646\u0627\u0621 \u062A\u0637\u0648\u0631 \u0627\u0644\u062C\u0646\u064A\u0646\u060C \u0648\u062A\u0633\u0628\u0628 \u0632\u064A\u0627\u062F\u0629 \u0627\u0644\u062A\u0646\u0628\u064A\u0647 \u0627\u0644\u0627\u0646\u062F\u0645\u0627\u062C \u0627\u0644\u0645\u0628\u0643\u0631 \u0644\u0639\u0638\u0627\u0645 \u0627\u0644\u062C\u0645\u062C\u0645\u0629."@ar ,
"A s\u00EDndrome de Crouzon, acrocefalossindactilia tipo II ou disostose craniofacial foi descrita pela primeira vez em 1921 por Louis Crouzon e constitui uma das s\u00EDndromes do grupo das acrocefalossindactilias. Esse grupo heterog\u00EAneo de s\u00EDndromes caracteriza-se por uma fus\u00E3o (ou sinostose) sutural prematura que ocorre isoladamente ou associada a outras anomalias. A s\u00EDndrome de Crouzon, assim como a de Apert, \u00E9 a mais conhecida e incidente, podendo ser diferenciada da simples craniostenose pela sua associa\u00E7\u00E3o com malforma\u00E7\u00F5es faciais."@pt ,
"Crouzon\u016Fv syndrom, d\u0159\u00EDve tak\u00E9 ozna\u010Dovan\u00FD jako kraniofaci\u00E1ln\u00ED dysost\u00F3za (dysostosis craniofacialis) je vrozen\u00E1 porucha v\u00FDvoje lebky s autozom\u00E1ln\u011B dominantn\u00ED d\u011Bdi\u010Dnost\u00ED. Byla pops\u00E1na asociace s mutacemi v genech FGFR2 a FGFR3, kter\u00E9 k\u00F3duj\u00ED receptory pro r\u016Fstov\u00E9 faktory fibroblast\u016F. Porucha r\u016Fstu lebky m\u016F\u017Ee v\u00E9st k \u00FAtlaku optick\u00E9ho nervu a jeho n\u00E1sledn\u00E9 atrofie. Ze stejn\u00FDch d\u016Fvod\u016F m\u016F\u017Ee doj\u00EDt i k poruch\u00E1m sluchu."@cs ,
"Crouzon syndrome is an autosomal dominant genetic disorder known as a branchial arch syndrome. Specifically, this syndrome affects the first branchial (or pharyngeal) arch, which is the precursor of the maxilla and mandible. Since the branchial arches are important developmental features in a growing embryo, disturbances in their development create lasting and widespread effects."@en ,
"La sindrome di Crouzon \u00E8 una malattia genetica che si manifesta principalmente sul viso: rappresenta la sindrome pi\u00F9 comune del gruppo delle craniofaciostenosi. Ha origine in seguito a una fusione prematura delle suture superiori e posteriori della maxilla attorno alle pareti delle orbite, con conseguente iposviluppo del terzo medio della faccia e proptosi. A livello del cavo orale si riscontrano ipoplasia mascellare, affollamento a carico dell'arcata superiore, palato ogivale e prognatismo mandibolare relativo. La diagnosi della sindrome di Crouzon viene posta sia tramite una valutazione del fenotipo clinico del paziente sia mediante analisi del DNA con reazione a catena delle polimerasi (Polymerase Chain Reaction, PCR). Il trattamento \u00E8 prevalentemente chirurgico. L'intervento ortodontic"@it ,
"\uD06C\uB8E8\uC874 \uC99D\uD6C4\uAD70(Crouzon \u75C7\u5019\u7FA4)\uC740 \uC720\uC804 \uC9C8\uD658 \uC911 \uD558\uB098\uB85C \uC548\uBA74\uAE30\uD615\uC744 \uB3D9\uBC18\uD55C\uB2E4. \uBC1C\uACAC\uC790\uC778 \uD504\uB791\uC2A4\uC758 \uC678\uACFC\uC758\uC0AC \uD06C\uB8E8\uC874(Octave Crouzon)\uC758 \uC774\uB984\uC744 \uB530\uC11C \uBA85\uBA85\uB418\uC5C8\uB2E4. \uC548\uAD6C \uB3CC\uCD9C\uB85C \uB208\uC744 \uAC10\uC9C0 \uBABB\uD574 \uC2DC\uB825 \uC190\uC0C1\uC774 \uC62C \uC218 \uC788\uC73C\uBA70, \uCE58\uC544\uC758 \uBD80\uC815\uAD50\uD569\uACFC \uD638\uD761\uACE4\uB780\uC744 \uACAA\uB294 \uACBD\uC6B0\uAC00 \uB9CE\uB2E4. \uB1CC\uC555 \uC0C1\uC2B9\uC73C\uB85C \uC2DC\uB825 \uC0C1\uC2E4\uC774\uB098 \uC815\uC2E0\uC9C0\uCCB4\uAC00 \uC62C \uC218 \uC788\uC73C\uBBC0\uB85C, \uC218\uC220\uC774 \uC694\uAD6C\uB41C\uB2E4. \uB300\uB7B5 25,000\uBA85 \uB2F9 \uD55C \uBA85 \uAF34\uB85C \uBC1C\uC0DD\uD558\uBA70, \uC6B0\uC131 \uC9C8\uD658\uC774\uB2E4."@ko ,
"La maladie de Crouzon est une craniosynostose en rapport avec une mutation du g\u00E8ne FGFR2. Cette mutation du g\u00E8ne FGFR2 est responsable d'autres craniosynostoses regroup\u00E9es sous le nom de craniosynostoses FGFR d\u00E9pendantes.Les sutures du cr\u00E2ne qui fusionnent dans cette maladie sont les sutures coronales, lambdo\u00EFdes et sagittales.Il existe une forme clinique de la maladie de Crouzon avec manifestation dermatologique \u00E0 type d'acanthosis nigricans en rapport avec une mutation du FGFR3."@fr ,
"Das Crouzon-Syndrom (Morbus Crouzon), Synonym: Dysostosis craniofacialis Crouzon, beschreibt eine genetische Erkrankung, die eine vorzeitige Verkn\u00F6cherung der Sch\u00E4deln\u00E4hte (Kraniosynostose) bei Kindern ausl\u00F6st. Das Kopfwachstum erfolgt dann in Richtung der noch verbleibenden offenen Sch\u00E4deln\u00E4hte, was zu einer Deformierung des Sch\u00E4dels f\u00FChren kann. Typisch sind auch lateral abfallende Lidachsen. Der autosomal-dominant vererbte Morbus Crouzon wird in einer von 25.000 Geburten beschrieben und kann durch mehrere Operationen verbessert werden. Die geistige Entwicklung der betroffenen Kinder verl\u00E4uft meist normal.Die Erkrankung wird nach ihrem Erstbeschreiber, dem franz\u00F6sischen Arzt Louis Edouard Octave Crouzon benannt."@de ,
"El s\u00EDndrome de Crouzon (CFD1), tambi\u00E9n llamado disostosis craneofacial cong\u00E9nita, es una enfermedad rara de origen gen\u00E9tico que se caracteriza por malformaciones del cr\u00E1neo y de la cara. Se transmite de progenitores a su descendencia seg\u00FAn un patr\u00F3n de herencia autos\u00F3mico dominante. La primera descripci\u00F3n fue realizada en el a\u00F1o 1912 por el m\u00E9dico franc\u00E9s (1874-1938).\u200B"@es ,
"Het syndroom van Crouzon of dysostosis craniofacialis herededitaria is een aangeboren craniosynostosesyndroom. De aandoening wordt autosomaal dominant overge\u00EBrfd met wisselende expressie (leden van een familie kunnen een verschillend sterke mate van misvorming van de schedel en het gelaat vertonen). Bij circa \u00E9\u00E9n derde van de pati\u00EBnten betreft het een nieuwe mutatie (die dan echter door de pati\u00EBnt wel kan worden doorgegeven). De frequentie is ongeveer 1 op 25.000 geboorten. Het syndroom werd voor het eerst beschreven door de Franse neuroloog Louis Crouzon in 1912."@nl ;
foaf:name "Crouzon syndrome"@en ;
foaf:depiction ,
,
,
.
@prefix dct: .
@prefix dbc: .
dbr:Crouzon_syndrome dct:subject dbc:Cell_surface_receptor_deficiencies ,
dbc:Congenital_disorders_of_musculoskeletal_system ,
dbc:Hearing_loss_with_craniofacial_syndromes ,
dbc:Genodermatoses ,
dbc:Congenital_oral_disorders ,
dbc:Rare_syndromes ;
dbo:abstract "Das Crouzon-Syndrom (Morbus Crouzon), Synonym: Dysostosis craniofacialis Crouzon, beschreibt eine genetische Erkrankung, die eine vorzeitige Verkn\u00F6cherung der Sch\u00E4deln\u00E4hte (Kraniosynostose) bei Kindern ausl\u00F6st. Das Kopfwachstum erfolgt dann in Richtung der noch verbleibenden offenen Sch\u00E4deln\u00E4hte, was zu einer Deformierung des Sch\u00E4dels f\u00FChren kann. Typisch sind auch lateral abfallende Lidachsen. Der autosomal-dominant vererbte Morbus Crouzon wird in einer von 25.000 Geburten beschrieben und kann durch mehrere Operationen verbessert werden. Die geistige Entwicklung der betroffenen Kinder verl\u00E4uft meist normal.Die Erkrankung wird nach ihrem Erstbeschreiber, dem franz\u00F6sischen Arzt Louis Edouard Octave Crouzon benannt."@de ,
"Zesp\u00F3\u0142 Crouzona, inaczej dysostoza czaszkowo-twarzowa (\u0142ac. dysostosis craniofacialis, ang. Crouzon syndrome, Crouzon craniofacial dysostosis) \u2013 choroba genetyczna o najprawdopodobniej autosomalnym dominuj\u0105cym typie dziedziczenia."@pl ,
"Sindrom Crouzon merupakan penyakit autosomal dominan dengan gejala yang bervariasi yang disebabkan oleh pertumbuhan FGFR2 (Fibroblast Growth Factor Receptor 2) pada kromosom 10. Penyakit ini dikarakteristikkan dengan yang terlalu cepat menutup dan sutura basis kranial dan juga seperti halnya orbital dan maksila secara kompleks (craniosynostosis). Kranium tersusun atas beberapa tulang yang dipisahkan oleh . Sutura ini membuat kranium membesar dan berkembang bersamaan dengan perkembangan otak. Jika satu atau lebih sutura menutup lebih cepat, khususnya sebelum otak berkembang secara sempurna, maka kemungkinan perkembangan otak akan menekan kranium dan dapat mengakibatkan terbukanya sutura yang lain. Hal ini dapat menyebabkan ketidaknormalan bentuk kepala dan pada beberapa kasus dapat mempercepat perkembangan otak.Sindrom Crouzon adalah gangguan herediter langka, ditandai dengan (kelainan pada rangka kepala/kranial) ditandai sejak lahir atau anak usia dini. Biasanya, anak usia dini melakukan operasi rekonstruksi kraniofasial (pembentukan kembali rangka kranial) untuk memperbaiki kelainan tersebut. Pada penderita sindrom crouzon, pengelolaan jalan nafas sulit karena berbagai kelainan dari daerah leher."@in ,
"\u514B\u9B6F\u677E\u6C0F\u75C7\u5019\u7FA4\u662F\u7B2C\u5341\u865F\u53CA\u7B2C\u56DB\u865F\u67D3\u8272\u9AD4\u4E0A\u7684FGFR\u57FA\u56E0\u51FA\u73FE\u932F\u8AA4\u800C\u5F15\u81F4\u7684\u9AA8\u9ABC\u3001\u8EDF\u9AA8\u7684\u5F62\u6210\u7570\u5E38\u3002 \u5176\u767C\u751F\u7387\u70BA1/25000\u81F31/60000\u3002 \u907A\u50B3\u65B9\u9762\uFF0C\u5176\u907A\u50B3\u65B9\u5F0F\u70BA\u9EDE\u7A81\u8B8A\uFF0C\u4F8B\u5982C342Y\u3001Y340H\u3001S354C\u53CAFGFR3\u7684P250R\u7B49\u5E7E\u8655\u9EDE\u7A81\u8B8A\u3002"@zh ,
"El s\u00EDndrome de Crouzon (CFD1), tambi\u00E9n llamado disostosis craneofacial cong\u00E9nita, es una enfermedad rara de origen gen\u00E9tico que se caracteriza por malformaciones del cr\u00E1neo y de la cara. Se transmite de progenitores a su descendencia seg\u00FAn un patr\u00F3n de herencia autos\u00F3mico dominante. La primera descripci\u00F3n fue realizada en el a\u00F1o 1912 por el m\u00E9dico franc\u00E9s (1874-1938).\u200B Se caracteriza por una craneosinostosis ( cierre prematuro de las suturas craneales) con la fusi\u00F3n de las suturas coronal, sagital y, a veces, lamboidea (de lado a lado en la parte posterior), crecimiento inferior del maxilar superior y otras deformidades con cierre prematuro de la sutura met\u00F3pica.\u200B\u200B"@es ,
"La maladie de Crouzon est une craniosynostose en rapport avec une mutation du g\u00E8ne FGFR2. Cette mutation du g\u00E8ne FGFR2 est responsable d'autres craniosynostoses regroup\u00E9es sous le nom de craniosynostoses FGFR d\u00E9pendantes.Les sutures du cr\u00E2ne qui fusionnent dans cette maladie sont les sutures coronales, lambdo\u00EFdes et sagittales.Il existe une forme clinique de la maladie de Crouzon avec manifestation dermatologique \u00E0 type d'acanthosis nigricans en rapport avec une mutation du FGFR3."@fr ,
"Crouzon\u016Fv syndrom, d\u0159\u00EDve tak\u00E9 ozna\u010Dovan\u00FD jako kraniofaci\u00E1ln\u00ED dysost\u00F3za (dysostosis craniofacialis) je vrozen\u00E1 porucha v\u00FDvoje lebky s autozom\u00E1ln\u011B dominantn\u00ED d\u011Bdi\u010Dnost\u00ED. Byla pops\u00E1na asociace s mutacemi v genech FGFR2 a FGFR3, kter\u00E9 k\u00F3duj\u00ED receptory pro r\u016Fstov\u00E9 faktory fibroblast\u016F. Hlavn\u00EDm p\u0159\u00EDznakem je v\u011B\u017Eovit\u00E1 lebka (turicefalie) s \u0161irok\u00FDm \u010Delem, p\u0159\u00EDpadn\u011B s vysok\u00FDm hrbolem v oblasti velk\u00E9 fontanely. D\u016Fvodem je p\u0159ed\u010Dasn\u00FD sr\u016Fst \u0161ipov\u00E9ho \u0161vu (sutura sagittalia). Dal\u0161\u00EDmi p\u0159\u00EDznaky jsou: (vystoupl\u00E9 o\u010Dn\u00ED bulby), orbit\u00E1ln\u00ED (\u0161iroce od sebe postaven\u00E9 o\u010Di), lehce antimongoloidn\u00ED postaven\u00ED o\u010Dn\u00EDch \u0161t\u011Brbin (osa o\u010Dn\u00EDch v\u00ED\u010Dek sm\u011B\u0159uje od st\u0159edu sm\u011Brem dol\u016F), divergentn\u00ED strabismus (rozb\u00EDhav\u00E9 \u0161ilh\u00E1n\u00ED), hypopl\u00E1zie maxily (men\u0161\u00ED horn\u00ED \u010Delist), tzv. nos papou\u0161\u010D\u00EDho zob\u00E1ku. Porucha r\u016Fstu lebky m\u016F\u017Ee v\u00E9st k \u00FAtlaku optick\u00E9ho nervu a jeho n\u00E1sledn\u00E9 atrofie. Ze stejn\u00FDch d\u016Fvod\u016F m\u016F\u017Ee doj\u00EDt i k poruch\u00E1m sluchu. Crouzon\u016Fv syndrom je mo\u017En\u00E9 \u0159e\u0161it operac\u00ED lebky v ran\u00E9m d\u011Btstv\u00ED. Pokud je operace provedena, posti\u017Een\u00ED jedinci se do\u017E\u00EDvaj\u00ED norm\u00E1ln\u00EDho v\u011Bku. I po operaci je b\u011B\u017En\u00FD podkus (opak p\u0159edkusu), tyto osoby maj\u00ED probl\u00E9m s ukousnut\u00EDm potravy a rad\u011Bji si ji kr\u00E1j\u00ED nebo l\u00E1mou."@cs ,
"A s\u00EDndrome de Crouzon, acrocefalossindactilia tipo II ou disostose craniofacial foi descrita pela primeira vez em 1921 por Louis Crouzon e constitui uma das s\u00EDndromes do grupo das acrocefalossindactilias. Esse grupo heterog\u00EAneo de s\u00EDndromes caracteriza-se por uma fus\u00E3o (ou sinostose) sutural prematura que ocorre isoladamente ou associada a outras anomalias. A s\u00EDndrome de Crouzon, assim como a de Apert, \u00E9 a mais conhecida e incidente, podendo ser diferenciada da simples craniostenose pela sua associa\u00E7\u00E3o com malforma\u00E7\u00F5es faciais."@pt ,
"\uD06C\uB8E8\uC874 \uC99D\uD6C4\uAD70(Crouzon \u75C7\u5019\u7FA4)\uC740 \uC720\uC804 \uC9C8\uD658 \uC911 \uD558\uB098\uB85C \uC548\uBA74\uAE30\uD615\uC744 \uB3D9\uBC18\uD55C\uB2E4. \uBC1C\uACAC\uC790\uC778 \uD504\uB791\uC2A4\uC758 \uC678\uACFC\uC758\uC0AC \uD06C\uB8E8\uC874(Octave Crouzon)\uC758 \uC774\uB984\uC744 \uB530\uC11C \uBA85\uBA85\uB418\uC5C8\uB2E4. \uC548\uAD6C \uB3CC\uCD9C\uB85C \uB208\uC744 \uAC10\uC9C0 \uBABB\uD574 \uC2DC\uB825 \uC190\uC0C1\uC774 \uC62C \uC218 \uC788\uC73C\uBA70, \uCE58\uC544\uC758 \uBD80\uC815\uAD50\uD569\uACFC \uD638\uD761\uACE4\uB780\uC744 \uACAA\uB294 \uACBD\uC6B0\uAC00 \uB9CE\uB2E4. \uB1CC\uC555 \uC0C1\uC2B9\uC73C\uB85C \uC2DC\uB825 \uC0C1\uC2E4\uC774\uB098 \uC815\uC2E0\uC9C0\uCCB4\uAC00 \uC62C \uC218 \uC788\uC73C\uBBC0\uB85C, \uC218\uC220\uC774 \uC694\uAD6C\uB41C\uB2E4. \uB300\uB7B5 25,000\uBA85 \uB2F9 \uD55C \uBA85 \uAF34\uB85C \uBC1C\uC0DD\uD558\uBA70, \uC6B0\uC131 \uC9C8\uD658\uC774\uB2E4."@ko ,
"Crouzon syndrome is an autosomal dominant genetic disorder known as a branchial arch syndrome. Specifically, this syndrome affects the first branchial (or pharyngeal) arch, which is the precursor of the maxilla and mandible. Since the branchial arches are important developmental features in a growing embryo, disturbances in their development create lasting and widespread effects. This syndrome is named after Octave Crouzon, a French physician who first described this disorder. First called \"craniofacial dysostosis\" (\"craniofacial\" refers to the skull and face, and \"dysostosis\" refers to malformation of bone), the disorder was characterized by a number of clinical features which can be described by the rudimentary meanings of its former name. This syndrome is caused by a mutation in the fibroblast growth factor receptor 2 (FGFR2), located on chromosome 10. The developing fetus's skull and facial bones fuse early or are unable to expand. Thus, normal bone growth cannot occur. Fusion of different sutures leads to abnormal patterns of growth of the skull."@en ,
"La sindrome di Crouzon \u00E8 una malattia genetica che si manifesta principalmente sul viso: rappresenta la sindrome pi\u00F9 comune del gruppo delle craniofaciostenosi. Ha origine in seguito a una fusione prematura delle suture superiori e posteriori della maxilla attorno alle pareti delle orbite, con conseguente iposviluppo del terzo medio della faccia e proptosi. A livello del cavo orale si riscontrano ipoplasia mascellare, affollamento a carico dell'arcata superiore, palato ogivale e prognatismo mandibolare relativo. La diagnosi della sindrome di Crouzon viene posta sia tramite una valutazione del fenotipo clinico del paziente sia mediante analisi del DNA con reazione a catena delle polimerasi (Polymerase Chain Reaction, PCR). Il trattamento \u00E8 prevalentemente chirurgico. L'intervento ortodontico elettivo \u00E8 effettuato al momento della maturazione scheletrica precoce."@it ,
"Het syndroom van Crouzon of dysostosis craniofacialis herededitaria is een aangeboren craniosynostosesyndroom. De aandoening wordt autosomaal dominant overge\u00EBrfd met wisselende expressie (leden van een familie kunnen een verschillend sterke mate van misvorming van de schedel en het gelaat vertonen). Bij circa \u00E9\u00E9n derde van de pati\u00EBnten betreft het een nieuwe mutatie (die dan echter door de pati\u00EBnt wel kan worden doorgegeven). De frequentie is ongeveer 1 op 25.000 geboorten. Het syndroom werd voor het eerst beschreven door de Franse neuroloog Louis Crouzon in 1912."@nl ,
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dbr:Magnetic_resonance_imaging ,
dbr:Human_skull ,
dbr:Oxycephaly ,
dbr:Cytosolic ,
dbr:Embryo ,
dbr:Medical_genetics ,
dbr:Hearing_loss_with_craniofacial_syndromes ,
dbr:Craniofacial_surgery ,
,
dbr:Human_eye ,
dbr:Blindness ,
dbr:Exophthalmos ,
dbr:Fibroblast_growth_factor_receptors ,
dbr:Missense_mutation ,
dbr:Hypodontia ,
dbr:Intellectual_disability ,
dbr:Strabismus ,
dbc:Hearing_loss_with_craniofacial_syndromes ,
dbc:Genodermatoses ,
dbr:Mesenchymal_stem_cells ,
dbr:Trigonocephaly ,
dbr:Treacher_Collins_syndrome ,
dbr:Sagittal_suture ,
dbr:Apert_syndrome ,
dbr:Hydrocephalus ,
dbr:Sensorineural_hearing_loss ,
dbr:Coronal_suture ,
,
dbr:Hypoplastic_maxilla ,
dbr:Fibroblast_growth_factor_receptor_2 ,
dbr:Octave_Crouzon ,
dbr:Osteoblast ,
dbr:Isoform ,
dbr:Human_mandible ,
dbr:Disulfide_bond ,
dbr:Dolichocephaly ,
dbr:Underbite ,
dbr:Lambdoidal_suture ,
dbr:Psittichorhina ,
,
,
dbr:Ossification ,
dbr:Craniosynostoses ,
dbr:Dysostosis ,
dbr:France ,
dbr:Mandibular_prognathism ,
dbr:FGFR2 ,
dbr:Face ,
dbr:Metopic_suture ,
dbc:Congenital_disorders_of_musculoskeletal_system ,
dbr:Maxilla ,
dbr:Frontal_bossing ,
dbr:Brachycephaly ,
dbr:Physician ,
dbr:Plagiocephaly ,
dbr:Chromosome_10 ,
dbr:Pharyngeal_arch ,
dbr:Frontal_bones ,
dbr:Lambdoid ,
dbr:Exon ,
dbc:Rare_syndromes ,
dbr:First_branchial_arch ,
dbr:Tyrosine ,
dbr:Craniosynostosis ,
dbr:Cysteine ,
dbr:Alternative_splicing ,
dbr:Transmembrane_proteins ,
dbr:Hypertelorism ,
dbr:Embryonic_development .
@prefix dbp: .
@prefix dbt: .
dbr:Crouzon_syndrome dbp:wikiPageUsesTemplate dbt:Reflist ,
dbt:Commons_category ,
dbt:Authority_control ,
dbt:EMedicine2 ,
dbt:Citation_needed ,
dbt:Short_description ,
dbt:Receptor_deficiencies ,
,
dbt:Congenital_malformations_and_deformations_of_musculoskeletal_system ,
dbt:Medical_resources ,
dbt:Cn .
@prefix ns14: .
dbr:Crouzon_syndrome dbp:wordnet_type ns14:synset-disease-noun-1 ;
dbo:thumbnail ;
dbo:wikiPageRevisionID 1089089568 .
@prefix ns15: .
dbr:Crouzon_syndrome dbo:wikiPageExternalLink ns15:crouzon-syndrome ,
.
@prefix xsd: .
dbr:Crouzon_syndrome dbo:wikiPageLength "11869"^^xsd:nonNegativeInteger ;
dbo:wikiPageID 1410061 ;
dbp:name "Crouzon syndrome"@en ;
dbp:caption "Baby with Crouzon syndrome"@en ;
owl:sameAs ,
,
wikidata:Q779250 ,
,
.
@prefix dbpedia-de: .
dbr:Crouzon_syndrome owl:sameAs dbpedia-de:Crouzon-Syndrom ,
,
.
@prefix dbpedia-da: .
dbr:Crouzon_syndrome owl:sameAs dbpedia-da:Crouzons_syndrom .
@prefix ns19: .
dbr:Crouzon_syndrome owl:sameAs ns19:Crouzonov_sindrom .
@prefix dbpedia-br: .
dbr:Crouzon_syndrome owl:sameAs dbpedia-br:Azoniad_Crouzon .
@prefix dbpedia-sr: .
dbr:Crouzon_syndrome owl:sameAs dbpedia-sr:Kruzonov_sindrom .
@prefix yago-res: .
dbr:Crouzon_syndrome owl:sameAs yago-res:Crouzon_syndrome ,
,
.
@prefix dbpedia-id: .
dbr:Crouzon_syndrome owl:sameAs dbpedia-id:Sindrom_Crouzon .
@prefix dbpedia-fr: .
dbr:Crouzon_syndrome owl:sameAs dbpedia-fr:Syndrome_de_Crouzon .
@prefix ns25: .
dbr:Crouzon_syndrome owl:sameAs ns25:Kruzona_sindroms ,
.
@prefix dbpedia-nl: .
dbr:Crouzon_syndrome owl:sameAs dbpedia-nl:Syndroom_van_Crouzon ,
dbr:Crouzon_syndrome ,
.
@prefix dbpedia-it: .
dbr:Crouzon_syndrome owl:sameAs dbpedia-it:Sindrome_di_Crouzon ,
,
,
.
@prefix gold: .
dbr:Crouzon_syndrome gold:hypernym dbr:Disorder .
@prefix prov: .
dbr:Crouzon_syndrome prov:wasDerivedFrom ;
foaf:isPrimaryTopicOf wikipedia-en:Crouzon_syndrome ;
dbo:icd9 "756.0" ;
dbo:icd10 "Q75.1" ;
dbo:eMedicineTopic "511"@en ;
dbo:meshId "D003394" ;
dbp:icd 756 ,
""@en ,
"Q75.1"@en ;
dbo:eMedicineSubject "ped"@en ;
dbp:emedicinesubj "ped"@en ;
dbp:meshid "D003394"@en ;
dbp:emedicinetopic 511 ;
dbo:diseasesDB "3203" ;
dbp:diseasesdb 3203 ;
dbo:omim 123500 ;
dbp:omim 123500 ;
dbp:field dbr:Medical_genetics .
dbr:Dolichocephaly dbo:wikiPageWikiLink dbr:Crouzon_syndrome .
dbo:wikiPageWikiLink dbr:Crouzon_syndrome .
dbr:Crouzonodermoskeletal_syndrome dbo:wikiPageWikiLink dbr:Crouzon_syndrome .
dbr:Fibroblast_growth_factor_receptor_2 dbo:wikiPageWikiLink dbr:Crouzon_syndrome .
dbr:Scott_Quin dbo:wikiPageWikiLink dbr:Crouzon_syndrome .
dbr:Acrocephalosyndactyly dbo:wikiPageWikiLink dbr:Crouzon_syndrome .
dbr:List_of_Internet_phenomena dbo:wikiPageWikiLink dbr:Crouzon_syndrome .
dbr:Paternal_age_effect dbo:wikiPageWikiLink dbr:Crouzon_syndrome .
dbr:Maxillary_hypoplasia dbo:wikiPageWikiLink dbr:Crouzon_syndrome .
dbr:Craniosynostosis dbo:wikiPageWikiLink dbr:Crouzon_syndrome .
dbr:Apert_syndrome dbo:wikiPageWikiLink dbr:Crouzon_syndrome .
dbr:Skull_bossing dbo:wikiPageWikiLink dbr:Crouzon_syndrome .
dbr:Congenital_hearing_loss dbo:wikiPageWikiLink dbr:Crouzon_syndrome .
dbr:Hypertelorism dbo:wikiPageWikiLink dbr:Crouzon_syndrome .
dbo:wikiPageWikiLink dbr:Crouzon_syndrome .
dbr:List_of_OMIM_disorder_codes dbo:wikiPageWikiLink dbr:Crouzon_syndrome .
dbr:Kleeblattschaedel_syndrome dbo:wikiPageWikiLink dbr:Crouzon_syndrome .
dbr:Turricephaly dbo:wikiPageWikiLink dbr:Crouzon_syndrome .
dbo:wikiPageWikiLink dbr:Crouzon_syndrome .
dbr:Zoltan_Vajo dbo:wikiPageWikiLink dbr:Crouzon_syndrome .
dbr:High-arched_palate dbo:wikiPageWikiLink dbr:Crouzon_syndrome .
dbr:List_of_syndromes dbo:wikiPageWikiLink dbr:Crouzon_syndrome .
dbo:wikiPageWikiLink dbr:Crouzon_syndrome .
dbr:Exophthalmos dbo:wikiPageWikiLink dbr:Crouzon_syndrome .
dbr:Craniofacial_dysostosis dbo:wikiPageWikiLink dbr:Crouzon_syndrome ;
dbo:wikiPageRedirects dbr:Crouzon_syndrome .
dbr:Craniofacial_dysarthrosis dbo:wikiPageWikiLink dbr:Crouzon_syndrome ;
dbo:wikiPageRedirects dbr:Crouzon_syndrome .
dbr:Crouzon_disease dbo:wikiPageWikiLink dbr:Crouzon_syndrome ;
dbo:wikiPageRedirects dbr:Crouzon_syndrome .
dbr:Crouzon_Syndrome dbo:wikiPageWikiLink dbr:Crouzon_syndrome ;
dbo:wikiPageRedirects dbr:Crouzon_syndrome .
dbr:Petero_Byakatonda dbo:wikiPageWikiLink dbr:Crouzon_syndrome ;
dbo:wikiPageRedirects dbr:Crouzon_syndrome .
dbo:wikiPageWikiLink dbr:Crouzon_syndrome ;
dbo:wikiPageRedirects dbr:Crouzon_syndrome .
dbr:Craniofacial_Dysostosis dbo:wikiPageWikiLink dbr:Crouzon_syndrome ;
dbo:wikiPageRedirects dbr:Crouzon_syndrome .
dbo:wikiPageWikiLink dbr:Crouzon_syndrome ;
dbo:wikiPageRedirects dbr:Crouzon_syndrome .
dbo:wikiPageWikiLink dbr:Crouzon_syndrome ;
dbo:wikiPageRedirects dbr:Crouzon_syndrome .
dbr:Crouzons dbo:wikiPageWikiLink dbr:Crouzon_syndrome ;
dbo:wikiPageRedirects dbr:Crouzon_syndrome .
dbo:wikiPageWikiLink dbr:Crouzon_syndrome ;
dbo:wikiPageRedirects dbr:Crouzon_syndrome .