[{"@context":"http:\/\/schema.org\/","@type":"BlogPosting","@id":"https:\/\/wiki.edu.vn\/all2jp\/wiki11\/archives\/1252#BlogPosting","mainEntityOfPage":"https:\/\/wiki.edu.vn\/all2jp\/wiki11\/archives\/1252","headline":"\u95a2\u7bc0\u75c7\u306e\u591a\u91cd\u5148\u5929\u6027-Wikipedia","name":"\u95a2\u7bc0\u75c7\u306e\u591a\u91cd\u5148\u5929\u6027-Wikipedia","description":"before-content-x4 \u4e0b \u95a2\u7bc0\u75c7\u306e\u591a\u91cd\u8179\u90e8\uff08AMC\uff09 \u751f\u6765\u306e\u95a2\u7bc0\u306e\u525b\u6027\uff08Dysmorphie\uff09\u304c\u7406\u89e3\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u7528\u8a9e\u306f\u6761\u4ef6\u3092\u8868\u3057\u307e\u3059\u3002 AMC\u306f\u3001\u6700\u521d\u306e3\u304b\u6708\uff08\u598a\u5a20\u306e8\u301c11\u9031\uff09\u306e\u7d42\u308f\u308a\u306b\u5411\u304b\u3063\u3066\u3001\u5668\u5b98\u767a\u751f\u6642\u306b\u767a\u751f\u3057\u307e\u3059\u3002\u305d\u308c\u306f\u500b\u3005\u306e\u95a2\u7bc0\u306b\u5f71\u97ff\u3092\u4e0e\u3048\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u3001\u5e83\u7bc4\u306a\u5f62\u3068\u3057\u3066\u3001\u81d3\u5668\u3084\u8133\u306e\u95a2\u4e0e\u306b\u3044\u304f\u3064\u304b\u306e\u95a2\u7bc0\u3092\u5c0e\u304d\u307e\u3059\u3002\u7b4b\u8089\u3001\u8171\u3001\u7279\u306b\u7d50\u5408\u7d44\u7e54\u306b\u306f\u3001\u95a2\u7bc0\u306e\u30ab\u30d7\u30bb\u30eb\u3068\u95a2\u7bc0\u306e\u53ef\u52d5\u6027\u304c\u751f\u3058\u308b\u7d50\u5408\u7d44\u7e54\u306b\u5909\u5316\u304c\u3042\u308a\u307e\u3059\u3002 after-content-x4 AMC\u3068\u3044\u3046\u7528\u8a9e\u306f\u3001\u81e8\u5e8a\u50cf\u307e\u305f\u306f\u75be\u60a3\u30b0\u30eb\u30fc\u30d7\u3092\u8aac\u660e\u3057\u3066\u3044\u307e\u3059 [\u521d\u3081] \u975e\u5e38\u306b\u7570\u306a\u308b\u30d5\u30a9\u30fc\u30e0\u3067\u3002 \u540c\u7fa9\u8a9e\u306f\u6b21\u306e\u3068\u304a\u308a\u3067\u3059\u3002 \u95a2\u7bc0\u75c7; Gu\u00e9rin-Stern-Syndrom; Rossi-Syndrom\uff1f Arthromyodysplasie\u3001Kongenitale; Kongenitale Amyoplasie\uff1f\u8907\u6570\u306eKongenitale Arthrogrypose; MyodySplasie\uff1f \u30e9\u30c6\u30f3 \u9aa8\u9ac4\u8853\u7642\u6cd5\u866b\u306e\u5909\u5f62;\u5148\u5929\u6027\u6241\u6843\u4f53;\u5148\u5929\u6027Arthromysplasia","datePublished":"2021-06-27","dateModified":"2021-06-27","author":{"@type":"Person","@id":"https:\/\/wiki.edu.vn\/all2jp\/wiki11\/archives\/author\/lordneo#Person","name":"lordneo","url":"https:\/\/wiki.edu.vn\/all2jp\/wiki11\/archives\/author\/lordneo","image":{"@type":"ImageObject","@id":"https:\/\/secure.gravatar.com\/avatar\/44a4cee54c4c053e967fe3e7d054edd4?s=96&d=mm&r=g","url":"https:\/\/secure.gravatar.com\/avatar\/44a4cee54c4c053e967fe3e7d054edd4?s=96&d=mm&r=g","height":96,"width":96}},"publisher":{"@type":"Organization","name":"Enzyklop\u00e4die","logo":{"@type":"ImageObject","@id":"https:\/\/wiki.edu.vn\/wiki4\/wp-content\/uploads\/2023\/08\/download.jpg","url":"https:\/\/wiki.edu.vn\/wiki4\/wp-content\/uploads\/2023\/08\/download.jpg","width":600,"height":60}},"image":{"@type":"ImageObject","@id":"https:\/\/upload.wikimedia.org\/wikipedia\/commons\/thumb\/8\/80\/Arthrogryposis_multiplex_congenita_%28by_Adolph_Wilhelm_Otto_1841%29.png\/220px-Arthrogryposis_multiplex_congenita_%28by_Adolph_Wilhelm_Otto_1841%29.png","url":"https:\/\/upload.wikimedia.org\/wikipedia\/commons\/thumb\/8\/80\/Arthrogryposis_multiplex_congenita_%28by_Adolph_Wilhelm_Otto_1841%29.png\/220px-Arthrogryposis_multiplex_congenita_%28by_Adolph_Wilhelm_Otto_1841%29.png","height":"328","width":"220"},"url":"https:\/\/wiki.edu.vn\/all2jp\/wiki11\/archives\/1252","wordCount":2108,"articleBody":" 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[]).push({});after-content-x4AMC\u3068\u3044\u3046\u7528\u8a9e\u306f\u3001\u81e8\u5e8a\u50cf\u307e\u305f\u306f\u75be\u60a3\u30b0\u30eb\u30fc\u30d7\u3092\u8aac\u660e\u3057\u3066\u3044\u307e\u3059 [\u521d\u3081] \u975e\u5e38\u306b\u7570\u306a\u308b\u30d5\u30a9\u30fc\u30e0\u3067\u3002 \u540c\u7fa9\u8a9e\u306f\u6b21\u306e\u3068\u304a\u308a\u3067\u3059\u3002 \u95a2\u7bc0\u75c7; Gu\u00e9rin-Stern-Syndrom; Rossi-Syndrom\uff1f Arthromyodysplasie\u3001Kongenitale; Kongenitale Amyoplasie\uff1f\u8907\u6570\u306eKongenitale Arthrogrypose; MyodySplasie\uff1f \u30e9\u30c6\u30f3  \u9aa8\u9ac4\u8853\u7642\u6cd5\u866b\u306e\u5909\u5f62;\u5148\u5929\u6027\u6241\u6843\u4f53;\u5148\u5929\u6027Arthromysplasia ; \u82f1\u8a9e  \u30aa\u30c3\u30c8\u30fc\u75c7\u5019\u7fa4; Rocher-Sheldon\u75c7\u5019\u7fa4 [2] \u983b\u5ea6\u306f1\u301c9\u301c100,000\uff08\u51fa\u751f3000\u4eba\u306b1\u4eba\uff09\u3068\u3057\u3066\u4e0e\u3048\u3089\u308c\u307e\u3059\u3002 [\u521d\u3081]        (adsbygoogle = window.adsbygoogle || 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\u81e8\u5e8a\u50cf\u306e\u767a\u73fe\u306b\u5fdc\u3058\u3066\u3001\u7570\u306a\u308b\u30bf\u30a4\u30d7\u304c\u533a\u5225\u3055\u308c\u307e\u3059\u3002 SO -CALLED\u306e\u300c\u30df\u30e5\u30f3\u30d8\u30f3\u5206\u985e\u300d\u304c\u4e00\u822c\u7684\u3067\u3059 [4] [5] \u305d\u308c\u306f\u30b7\u30a2\u30c8\u30eb\u306e\u30b8\u30e5\u30c7\u30a3\u30b9\u30db\u30fc\u30eb\u306b\u623b\u308a\u307e\u3059\u3002 [6]        (adsbygoogle = window.adsbygoogle || []).push({});after-content-x4Table of Contents\u30bf\u30a4\u30d71 [ \u7de8\u96c6 | \u30bd\u30fc\u30b9\u30c6\u30ad\u30b9\u30c8\u3092\u7de8\u96c6\u3057\u307e\u3059 ] \u30bf\u30a4\u30d72 [ \u7de8\u96c6 | \u30bd\u30fc\u30b9\u30c6\u30ad\u30b9\u30c8\u3092\u7de8\u96c6\u3057\u307e\u3059 ] \u30bf\u30a4\u30d73 [ \u7de8\u96c6 | \u30bd\u30fc\u30b9\u30c6\u30ad\u30b9\u30c8\u3092\u7de8\u96c6\u3057\u307e\u3059 ] \u7406\u5b66\u7642\u6cd5\u3068\u4f5c\u696d\u7642\u6cd5 [ \u7de8\u96c6 | \u30bd\u30fc\u30b9\u30c6\u30ad\u30b9\u30c8\u3092\u7de8\u96c6\u3057\u307e\u3059 ] \u6574\u5f62\u5916\u79d1\u652f\u63f4 [ \u7de8\u96c6 | \u30bd\u30fc\u30b9\u30c6\u30ad\u30b9\u30c8\u3092\u7de8\u96c6\u3057\u307e\u3059 ] \u64cd\u4f5c [ \u7de8\u96c6 | \u30bd\u30fc\u30b9\u30c6\u30ad\u30b9\u30c8\u3092\u7de8\u96c6\u3057\u307e\u3059 ] \u30bf\u30a4\u30d71 [ \u7de8\u96c6 | \u30bd\u30fc\u30b9\u30c6\u30ad\u30b9\u30c8\u3092\u7de8\u96c6\u3057\u307e\u3059 ] \u56db\u80a2\u306e\u307f\u304c\u5f71\u97ff\u3092\u53d7\u3051\u307e\u3059\u3002\u30d5\u30a9\u30fc\u30e0\u306b\u5fdc\u3058\u3066\u30012\u3064\u306e\u30b5\u30d6\u30b0\u30eb\u30fc\u30d7\u306f\u307e\u3060\u533a\u5225\u3055\u308c\u3066\u3044\u307e\u3059\u3002 \u305d\u308c\u4ee5\u4e0a\u306e\u969c\u5bb3\u3084\u5947\u5f62\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u7cbe\u795e\u7684\u304a\u3088\u3073\u611f\u899a\u7684\u306a\u767a\u9054\u306f\u6b63\u5e38\u3067\u3059\u3002 \u30bf\u30a4\u30d72 [ \u7de8\u96c6 | \u30bd\u30fc\u30b9\u30c6\u30ad\u30b9\u30c8\u3092\u7de8\u96c6\u3057\u307e\u3059 ] \u30bf\u30a4\u30d71\u306e\u5909\u5316\u306b\u52a0\u3048\u3066\u3001\u7570\u306a\u308b\u81d3\u5668\u306e\u5947\u5f62\uff08\u4f8b\uff1a\u8179\u90e8\u8180\u80f1\u3001\u8180\u80f1\u3001\u982d\u3001\u810a\u690e\uff09\u3082\u3042\u308a\u307e\u3059\u3002 \u30bf\u30a4\u30d73 [ \u7de8\u96c6 | \u30bd\u30fc\u30b9\u30c6\u30ad\u30b9\u30c8\u3092\u7de8\u96c6\u3057\u307e\u3059 ] \u7570\u5f62\u4f53\u306b\u52a0\u3048\u3066\u3001\u6700\u3082\u91cd\u5ea6\u306e\u5947\u5f62\u307e\u3067\u3001\u810a\u690e\u3068\u4e2d\u67a2\u795e\u7d4c\u7cfb\u306e\u5947\u5f62\u304c\u3055\u3089\u306b\u591a\u304b\u308c\u5c11\u306a\u304b\u308c\u9855\u8457\u306a\u5947\u5f62\u304c\u3042\u308a\u307e\u3059\u3002 \u5b64\u7acb\u578b\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\u306e\u5f8c\u3001\u30a2\u30fc\u30c8\u30b9\u30ed\u30ae\u30dd\u30fc\u30b9\u306f\u6b21\u306e\u75be\u60a3\u3067\u767a\u751f\u3057\u307e\u3059\u3002 \u95a2\u7bc0\u30dd\u30fc\u30b9\u69d8\u75c7\u72b6 \u3001\u540c\u7fa9\u8a9e\uff1a Kuskokwim\u75c5 \u3001\u7a81\u7136\u5909\u7570 FKBP10 -gen\u67d3\u8272\u4f5317 Q21.2 [7] [8] \u30a8\u30eb\u30c8\u30ed\u30ae\u30d4\u30b9 – \u30cf\u30a4\u30d1\u30fc\u30d5\u30a1\u30c3\u30c8\u30fc\u30b9\u3001\u30e4\u30bf\u30bf\u30a4\u30d7 \u3001\u540c\u7fa9\u8a9e\uff1a \u30b8\u30e7\u30f3\u30b9\u30c8\u30f3\u30fb\u30a2\u30f3\u30c9\u30fb\u30b9\u30cb\u30fc\u30ea\u30fc\u30fb\u30b7\u30f3\u30af\u30ed\u30fc\u30e0 [9] \u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u306e\u7d50\u679c\u3068\u3057\u3066\u306e\u95a2\u7bc0\u30dd\u30fc\u30b9 [\u5341] \u30a2\u30fc\u30c8\u30b9\u30ed\u30ae\u30dd\u30fc\u30b9\u3001\u81f4\u6b7b – \u30d5\u30ed\u30f3\u30c8\u30db\u30fc\u30f3\u7d30\u80de\u306e\u55aa\u5931 \u3001synonyom\uff1a \u305d\u308c\u4ee5\u5916 \u3001\u5e38\u67d3\u8272\u4f53\u52a3\u6027\u3001\u7a81\u7136\u5909\u7570 glei1 -Gen Chromosom 9 Q34.11 [11] [12\u756a\u76ee] Arc-Syndrom\u3001\u540c\u7fa9\u8a9e\uff1a \u30a2\u30fc\u30c8\u30b9\u30ed\u30ae\u30dd\u30fc\u30b9 – \u814e\u6a5f\u80fd\u969c\u5bb3 – \u80c6\u6c41\u3046\u3063\u3053 \u95a2\u7bc0\u75c7\u306e\u30de\u30eb\u30c1\u30d7\u30ec\u30c3\u30af\u30b9\u306e\u5148\u5929\u6027\u3001\u30cb\u30e5\u30fc\u30ed\u30b8\u30a7\u30a4\u30ca\u30fc\u578b \u3001\u5e38\u67d3\u8272\u4f53\u52a3\u6027 [13] Illum-Syndrom\u3001\u540c\u7fa9\u8a9e\uff1a \u95a2\u7bc0\u75c7\u306e\u591a\u91cd\u6027\u5148\u5929\u6027 – \u53e3shistling-face-syndrom\u3001\u95a2\u7bc0\u75c7\u30de\u30eb\u30c1\u30d7\u30ec\u30c3\u30af\u30b9\u306e\u5148\u5929\u6027 –  Zns-kalzifikation \u89aa\u6307\u3001\u8ffd\u52a0 –  arthrogrypose\u3001\u30bf\u30a4\u30d7\u30af\u30ea\u30b9\u30c1\u30e3\u30f3 \u3001\u5e38\u67d3\u8272\u4f53\u52a3\u6027 [14] Pena-Shokeir-Syndrom I\u3001\u540c\u7fa9\u8a9e\uff1a \u30d5\u30a7\u30c6\u30fc\u30ebakinesie\/phypokinesie-sequenz\u3001arthrogrypostis multlexis-lungenhypoplasias wieacker-wolff-syndrom\u3001\u540c\u7fa9\u8a9e\uff1a \u30a4\u30f3\u30c6\u30ea\u30b8\u30a7\u30f3\u30b9\u524a\u6e1b\u3068\u958b\u767a\u9045\u5ef6\u5951\u7d04\u75c7\u5019\u7fa4 \u3001X-\u67d3\u8272\u4f53 – \u8010\u6027 \u80ce\u5150\u306fZerebro -Reno -urogenitals agenesie\/pyplasie -syndrom \u3001\u540c\u7fa9\u8a9e\uff1a \u30e1\u30c3\u30b1\u30eb\u75c7\u5019\u7fa412 \u3001\u5e38\u67d3\u8272\u4f53\u52a3\u6027\u3001\u7a81\u7136\u5909\u7570 KIF14  – \u67d3\u8272\u4f531 Q32.1\u306b\u306a\u308a\u307e\u3059 [15] [16] Marden-Walker-Syndrom\u3001\u5e38\u67d3\u8272\u4f53\u512a\u4f4d \u591a\u91cd\u88c2\u5b50\u6bdb\u866b\u69d8\u4f53\u75c7 \u3001\u540c\u7fa9\u8a9e\uff1a Froster-Iskenius-Waterson-Hall-Syndrom; Maligne Hyperthermie-Arthrogrypose-Torticollis-Syndrom \u3001\u5e38\u67d3\u8272\u4f53\u52a3\u6027 [17] \u30de\u30a4\u30aa\u30b2\u30f3\u95a2\u7bc0\u75c7\u30de\u30eb\u30c1\u30d7\u30ec\u30c3\u30af\u30b9\u306e\u5148\u5929\u6027\u3001\u5e38\u67d3\u8272\u4f53\u51cd\u7d50\u75c7 \u3001\u540c\u7fa9\u8a9e\uff1a AMC\u3001\u7b4b\u539f\u6027\u3001\u5e38\u67d3\u8272\u4f53\u52a3\u6027;\u95a2\u7bc0\u52d5\u614b\u30de\u30eb\u30c1\u30d7\u30ec\u30c3\u30af\u30b9\u89d2\u5ea6\u3001Syne1\u4f9d\u5b58\u6027; Syne1\u4f9d\u5b58AMC \u3001\u5e38\u67d3\u8272\u4f53\u52a3\u6027 [18] \u30df\u30aa\u30d1\u30b7\u30fc\u3001\u81f4\u6b7b\u3001\u30b3\u30f3\u30b2\u30cb\u30bf\u30eb\u3001\u30bf\u30a4\u30d7\u30b3\u30f3\u30d7\u30c8\u30f3 – \u30ce\u30fc\u30b9 \u3001\u5e38\u67d3\u8272\u4f53\u52a3\u6027\u3001\u7a81\u7136\u5909\u7570 CNTN1 -gen\u67d3\u8272\u4f5312 Q12 [19] [20] Boylan-dew-syndrom\u3001\u540c\u7fa9\u8a9e\uff1a \u795e\u7d4c\u969c\u5bb3\u3001\u4f4e\u30df\u30a8\u30ea\u30f3\u5316 – \u95a2\u7bc0\u30dd\u30fc\u30b9 \u3001\u5e38\u67d3\u8272\u4f53\u52a3\u6027 \u5148\u5929\u6027\u9aa8\u9aa8\u6298\u3092\u4f34\u3046\u51fa\u751f\u524d\u767a\u75c7\u810a\u690e\u7b4b\u840e\u7e2e [21] Spinale Musculardophie\u3001\u5e7c\u5150\u3001X-gromosomeals\u3001\u540c\u7fa9\u8a9e\uff1a \u95a2\u7bc0\u75c7\u30de\u30eb\u30c1\u30dd\u30b8\u30e5\u30fc\u30c8Coucheita\u3001\u84b8\u7559X-\u30af\u30ed\u30e0\u30ed\u30bd\u30e1\u30fc\u30eb; smax2;\u810a\u9ac4\u97f3\u8f2a\u306f\u30a2\u30fc\u30c8\u30b9\u30ed\u30ae\u30dd\u30b9\u3092mit; 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Staheli\u3001J\u3002Hall\u3001K\u3002Jaffe\u3001D\u3002Paholke\uff1a \u95a2\u7bc0\u75c7\uff1a\u30c6\u30ad\u30b9\u30c8\u30a2\u30c8\u30e9\u30b9\u3002 1998\u3001ISBN 0-521-57106-5\u3002 \uff08 PDF ; 4,5 MB\uff09 K. Parsch\u3001S\u3002Pietrzak\uff1a [\u5148\u5929\u6027\u8907\u6570\u306e\u95a2\u7bc0\u75c7]\u3002 \u306e\uff1a Der Orthopade\u3002 \u30dc\u30ea\u30e5\u30fc\u30e036\u3001\u756a\u53f73\u30012007\u5e743\u6708\u3001281\u301c290\u30da\u30fc\u30b8\u3001 doi\uff1a10.1007\/s00132-007-1044-0 \u3001 PMID 17323063 \uff08\u30ec\u30d3\u30e5\u30fc\uff09\u3002 \uff08 PDF ; 835 kb\uff09 M.\u30a6\u30a7\u30b0\u30ca\u30fc\uff1a \u95a2\u7bc0\u75c7\u30de\u30eb\u30c1\u30d7\u30ec\u30c3\u30af\u30b9\u306e\u5148\u5929\u6027 – \u5206\u985e\u3002 2007\u3001ISBN 978-3-8322-5961-7 Hiromi Hirata et al.: ZC4H2\u5909\u7570\u306f\u3001\u4e2d\u592e\u304a\u3088\u3073\u672b\u68a2\u30b7\u30ca\u30d7\u30b9\u53ef\u5851\u6027\u306e\u969c\u5bb3\u3092\u901a\u3058\u3066\u3001\u95a2\u7bc0\u75c7\u306e\u591a\u91cd\u5148\u5929\u6027\u304a\u3088\u3073\u77e5\u7684\u969c\u5bb3\u306b\u95a2\u9023\u3057\u3066\u3044\u307e\u3059 \u3002\u306e\uff1a American Journal of Human Genetics\u3002 \u30d0\u30f3\u30c992\u3001\u30ca\u30f3\u30d0\u30fc5\u3001MAI 2013\u3001S\u3002681\u2013695\u3001 doi\uff1a10.1016\/j.ajhg.2013.03.021 \u3001 PMID 23623388 \u3001 PMC 3644645 \uff08\u7121\u6599\u306e\u5168\u6587\uff09\u3002 F.\u554f\u984c\uff1a \u5b9f\u969b\u306e\u5c0f\u5150\u6574\u5f62\u5916\u79d1 \u3002 Springer 1998\u3001ISBN 3-540-61480-X\u30014.6.7.1 emedicine.medscape \u2191 a b  \u95a2\u7bc0\u75c7\u306e\u591a\u91cd\u6027\u5148\u5929\u6027\u3002 \u306e\uff1a \u5b64\u5150\u9662 \uff08\u5e0c\u5c11\u75be\u60a3\u306e\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\uff09\u3002  \u2191  \u307e\u308c\u306a\u75c5\u6c17  \u2191  Hiromi Hirata et al.: ZC4H2\u5909\u7570\u306f\u3001\u4e2d\u592e\u304a\u3088\u3073\u672b\u68a2\u30b7\u30ca\u30d7\u30b9\u53ef\u5851\u6027\u306e\u969c\u5bb3\u3092\u901a\u3058\u3066\u3001\u95a2\u7bc0\u75c7\u306e\u591a\u91cd\u5148\u5929\u6027\u304a\u3088\u3073\u77e5\u7684\u969c\u5bb3\u306b\u95a2\u9023\u3057\u3066\u3044\u307e\u3059 \u3002 Jum Gen\uff082013\uff09Vol\u3002 92 pp\u3002681\u2013695  \u2191  H. 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