{"id":17396,"date":"2026-01-22T03:36:44","date_gmt":"2026-01-22T03:36:44","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=17396"},"modified":"2026-01-22T03:37:31","modified_gmt":"2026-01-22T03:37:31","slug":"nablus-mask-like-facial-syndrome-nmlfs","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/nablus-mask-like-facial-syndrome-nmlfs\/","title":{"rendered":"Nablus mask-like facial syndrome (NMLFS)"},"content":{"rendered":"\n<h2 class=\"wp-block-heading\"><strong>\u5225\u540d\u30fb\u95a2\u9023\u75be\u60a3\u540d<\/strong><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u30ca\u30d6\u30eb\u30b9\u75c7\u5019\u7fa4<\/strong><\/li>\n\n\n\n<li><strong>8q22.1\u5fae\u5c0f\u6b20\u5931\u75c7\u5019\u7fa4\uff088q22.1 microdeletion syndrome\uff09<\/strong><\/li>\n\n\n\n<li><strong>\u4eee\u9762\u69d8\u9854\u8c8c\u30fb\u773c\u77bc\u88c2\u72ed\u5c0f\u30fb\u624b\u8db3\u7570\u5e38\u75c7\u5019\u7fa4<\/strong><\/li>\n\n\n\n<li><strong>\u95a2\u9023\uff1aBlepharophimosis-ptosis-epicanthus inversus syndrome (BPES)<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u203b\u773c\u77bc\u4e0b\u5782\u3084\u773c\u77bc\u88c2\u72ed\u5c0f\u306a\u3069\u306e\u76ee\u306e\u7279\u5fb4\u304c\u985e\u4f3c\u3059\u308b\u305f\u3081\u3001\u9451\u5225\u8a3a\u65ad\u306b\u6319\u3052\u3089\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u5bfe\u8c61\u67d3\u8272\u4f53\u9818\u57df<\/strong><\/h2>\n\n\n\n<p><strong>8\u756a\u67d3\u8272\u4f53 \u9577\u8155\uff08q\uff0922.1\u9818\u57df\u306e\u5fae\u5c0f\u6b20\u5931<\/strong><\/p>\n\n\n\n<p>\u672c\u75c7\u5019\u7fa4\u306f\u30018\u756a\u67d3\u8272\u4f53\u306e\u9577\u8155\u306b\u4f4d\u7f6e\u3059\u308b\u300c8q22.1\u300d\u3068\u3044\u3046\u7279\u5b9a\u306e\u30d0\u30f3\u30c9\u9818\u57df\u304c\u5931\u308f\u308c\u308b<strong>\u5fae\u5c0f\u6b20\u5931<\/strong>\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u3010\u30b2\u30ce\u30e0\u4e0a\u306e\u8a73\u7d30\u3068\u8cac\u4efb\u907a\u4f1d\u5b50\u306e\u691c\u8a0e\u3011<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8cac\u4efb\u9818\u57df:<\/strong> 8q22.1\u9818\u57df\u306b\u306f\u8907\u6570\u306e\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u8fd1\u5e74\u306e\u7814\u7a76\u3067\u306f\u7279\u306b <strong>GRHL2\u907a\u4f1d\u5b50<\/strong> \u306e\u5468\u8fba\u9818\u57df\u3084\u3001\u305d\u306e\u767a\u73fe\u3092\u5236\u5fa1\u3059\u308b\u56e0\u5b50\u306e\u6b20\u5931\u304c\u3001\u9854\u9762\u304a\u3088\u3073\u76ae\u819a\u306e\u5f62\u6210\u7570\u5e38\u306b\u95a2\u4e0e\u3057\u3066\u3044\u308b\u53ef\u80fd\u6027\u304c\u5f37\u304f\u793a\u5506\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u75c5\u614b\u30e1\u30ab\u30cb\u30ba\u30e0:<\/strong> \u3053\u306e\u9818\u57df\u306e<strong>\u5fae\u5c0f\u6b20\u5931<\/strong>\u306b\u3088\u308a\u3001\u80da\u767a\u751f\u671f\uff08\u80ce\u5150\u306e\u4f53\u304c\u4f5c\u3089\u308c\u308b\u6642\u671f\uff09\u306b\u304a\u3051\u308b\u795e\u7d4c\u5824\u7d30\u80de\u7531\u6765\u306e\u7d44\u7e54\uff08\u9854\u306e\u9aa8\u683c\u3001\u76ae\u819a\u3001\u7d50\u5408\u7d44\u7e54\u306a\u3069\uff09\u306e\u5206\u5316\u3084\u79fb\u52d5\u306b\u30a8\u30e9\u30fc\u304c\u751f\u3058\u307e\u3059\u3002\u3053\u306e\u300c\u907a\u4f1d\u5b50\u91cf\u52b9\u679c\uff08\u30cf\u30d7\u30ed\u4e0d\u5168\uff09\u300d\u304c\u3001\u7b4b\u8089\u306e\u52d5\u304d\u3092\u5236\u9650\u3059\u308b\u3088\u3046\u306a\u7279\u7570\u7684\u306a\u76ae\u819a\u306e\u8cea\u611f\u3084\u3001\u9aa8\u683c\u306e\u5f62\u6210\u4e0d\u5168\u3092\u62db\u304f\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u767a\u751f\u983b\u5ea6<\/strong><\/h2>\n\n\n\n<p><strong>\u6975\u3081\u3066\u7a00\uff08Ultra-rare\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6b63\u78ba\u306a\u983b\u5ea6:<\/strong> \u4e16\u754c\u7684\u306a\u7d71\u8a08\u306f\u5b58\u5728\u3057\u307e\u305b\u3093\u304c\u30011990\u5e74\u4ee3\u306b\u30d1\u30ec\u30b9\u30c1\u30ca\u306e\u30ca\u30d6\u30eb\u30b9\uff08Nablus\uff09\u3067\u6700\u521d\u306e\u75c7\u4f8b\u304c\u5831\u544a\u3055\u308c\u3066\u4ee5\u6765\u3001\u4e16\u754c\u5168\u4f53\u3067\u3082\u5831\u544a\u4f8b\u306f\u6570\u5341\u4f8b\u306b\u6e80\u305f\u306a\u3044\u3001\u6975\u3081\u3066\u5e0c\u5c11\u306a\u75be\u60a3\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5206\u5e03:<\/strong> \u7279\u5b9a\u306e\u4eba\u7a2e\u306b\u9650\u5b9a\u3055\u308c\u308b\u3082\u306e\u3067\u306f\u306a\u304f\u3001\u6b27\u7c73\u3001\u4e2d\u6771\u3001\u30a2\u30b8\u30a2\u306a\u3069\u5404\u5730\u3067\u6563\u767a\u7684\u306a\u5831\u544a\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8a3a\u65ad\u306e\u73fe\u72b6:<\/strong> \u5916\u898b\u7684\u7279\u5fb4\u304c\u975e\u5e38\u306b\u5f37\u70c8\u3067\u3042\u308b\u305f\u3081\u3001\u81e8\u5e8a\u7684\u306b\u7591\u308f\u308c\u308b\u3053\u3068\u306f\u3042\u308a\u307e\u3059\u304c\u3001\u6700\u7d42\u7684\u306a\u78ba\u5b9a\u306b\u306f\u9ad8\u89e3\u50cf\u5ea6\u306e\u67d3\u8272\u4f53\u691c\u67fb\uff08\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u691c\u67fb\uff09\u304c\u4e0d\u53ef\u6b20\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u81e8\u5e8a\u7684\u7279\u5fb4\uff08\u75c7\u72b6\uff09<\/strong><\/h2>\n\n\n\n<p>NMLFS\u306e\u6700\u5927\u306e\u7279\u5fb4\u306f\u3001\u75be\u60a3\u540d\u306b\u3082\u3042\u308b\u300c\u4eee\u9762\u69d8\u300d\u306e\u9854\u8c8c\u3067\u3059\u304c\u3001\u75c7\u72b6\u306f\u5168\u8eab\u306e\u76ae\u819a\u3001\u9aa8\u683c\u3001\u795e\u7d4c\u767a\u9054\u306b\u53ca\u3073\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u7279\u5fb4\u7684\u306a\u9854\u8c8c\uff08Mask-like facies\uff09<\/strong><\/p>\n\n\n\n<p>\u672c\u75c7\u5019\u7fa4\u3092\u5b9a\u7fa9\u3059\u308b\u6700\u3082\u91cd\u8981\u306a\u81e8\u5e8a\u6240\u898b\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8868\u60c5\u306e\u4e4f\u3057\u3055:<\/strong> \u9854\u306e\u76ae\u819a\u304c\u975e\u5e38\u306b\u30bf\u30a4\u30c8\uff08\u7a81\u3063\u5f35\u3063\u305f\u3088\u3046\uff09\u3067\u3001\u611f\u60c5\u8868\u73fe\u306b\u3088\u308b\u7b4b\u8089\u306e\u52d5\u304d\u304c\u5236\u9650\u3055\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u773c\u77bc\u88c2\u72ed\u5c0f\uff08Blepharophimosis\uff09:<\/strong> \u76ee\u306e\u6a2a\u5e45\u304c\u72ed\u304f\u3001\u76ee\u304c\u5c0f\u3055\u304f\u898b\u3048\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u773c\u77bc\u4e0b\u5782\uff08Ptosis\uff09:<\/strong> \u307e\u3076\u305f\u304c\u5782\u308c\u4e0b\u304c\u308a\u3001\u76ee\u304c\u5341\u5206\u306b\u958b\u304d\u307e\u305b\u3093\u3002<\/li>\n\n\n\n<li><strong>\u7709:<\/strong> \u7709\u6bdb\u304c\u8584\u3044\u3001\u3042\u308b\u3044\u306f\u5916\u5074\u304c\u6b20\u640d\u3057\u3066\u3044\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u9f3b:<\/strong> \u9f3b\u6839\u90e8\u304c\u5e73\u5766\u3067\u3001\u9f3b\u5148\u304c\u5e45\u5e83\u304f\u3001\u9f3b\u5b54\u304c\u4e0a\u3092\u5411\u3044\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u53e3:<\/strong> \u5e38\u306b\u53e3\u3092\u534a\u958b\u304d\u306b\u3057\u3066\u3044\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u4e0a\u5507\u304c\u5f13\u72b6\uff08\u5bcc\u58eb\u5c71\u578b\uff09\u3067\u3001\u4eba\u4e2d\uff08\u9f3b\u306e\u4e0b\u306e\u6e9d\uff09\u304c\u77ed\u304f\u5e73\u5766\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8033:<\/strong> \u8033\u306e\u4f4d\u7f6e\u304c\u4f4e\u304f\u3001\u5f8c\u65b9\u306b\u56de\u8ee2\u3057\u3066\u304a\u308a\u3001\u8033\u4ecb\u306e\u5f62\u304c\u5358\u7d14\u5316\u3057\u3066\u3044\u308b\u3053\u3068\u304c\u591a\u304f\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u76ae\u819a\u304a\u3088\u3073\u4ed8\u5c5e\u5668\u306e\u7570\u5e38<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u76ae\u819a\u306e\u8cea\u611f:<\/strong> \u5168\u8eab\u306e\u76ae\u819a\u304c\u8584\u304f\u3001\u5149\u6ca2\u304c\u3042\u308a\u3001\u3042\u308b\u3044\u306f\u9006\u306b\u30b6\u30e9\u30b6\u30e9\u3068\u3057\u305f\u8cea\u611f\uff08\u89d2\u5316\u4e0d\u5168\u69d8\uff09\u3092\u5448\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6bdb\u9aea:<\/strong> \u982d\u9aea\u304c\u307e\u3070\u3089\u3067\u7d30\u3044\uff08\u758e\u6bdb\uff09\u3001\u3042\u308b\u3044\u306f\u751f\u3048\u969b\u304c\u9ad8\u3044\u306a\u3069\u306e\u7279\u5fb4\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6b6f:<\/strong> \u6b6f\u306e\u6b20\u640d\uff08\u5148\u5929\u6027\u7121\u6b6f\u75c7\uff09\u3084\u3001\u5f62\u304c\u7570\u5e38\uff08\u5186\u9310\u6b6f\u306a\u3069\uff09\u3001\u30a8\u30ca\u30e1\u30eb\u8cea\u306e\u5f62\u6210\u4e0d\u5168\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u624b\u8db3\u306e\u7570\u5e38<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u77ed\u6307\u75c7:<\/strong> \u624b\u8db3\u306e\u6307\u304c\u5168\u4f53\u7684\u306b\u77ed\u3044\u3002<\/li>\n\n\n\n<li><strong>\u5408\u6307\uff08\u8dbe\uff09\u75c7:<\/strong> \u6307\u3068\u6307\u306e\u9593\u304c\u76ae\u819a\u3067\u3064\u306a\u304c\u3063\u3066\u3044\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\uff08\u7279\u306b\u7b2c2\u6307\u3068\u7b2c3\u6307\u306e\u9593\uff09\u3002<\/li>\n\n\n\n<li><strong>\u6307\u306e\u5909\u5f62:<\/strong> \u722a\u306e\u4f4e\u5f62\u6210\uff08\u722a\u304c\u5c0f\u3055\u3044\u3001\u3042\u308b\u3044\u306f\u7121\u3044\uff09\u3084\u3001\u6307\u306e\u95a2\u7bc0\u304c\u786c\u304f\u66f2\u304c\u308a\u306b\u304f\u3044\uff08\u62d8\u7e2e\uff09\u75c7\u72b6\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u795e\u7d4c\u767a\u9054\u3068\u77e5\u7684\u6a5f\u80fd<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u77e5\u7684\u969c\u5bb3:<\/strong> \u8efd\u5ea6\u304b\u3089\u4e2d\u7b49\u5ea6\u306e\u77e5\u7684\u969c\u5bb3\u304c\u591a\u304f\u306e\u75c7\u4f8b\u3067\u8a8d\u3081\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u767a\u9054\u9045\u6ede:<\/strong> \u904b\u52d5\u767a\u9054\uff08\u6b69\u884c\u306a\u3069\uff09\u3084\u8a00\u8a9e\u767a\u9054\u306e\u9045\u308c\u304c\u5e7c\u5150\u671f\u304b\u3089\u9855\u8457\u306b\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7b4b\u7dca\u5f35\u4f4e\u4e0b:<\/strong> \u4e73\u5150\u671f\u306b\u300c\u4f53\u304c\u67d4\u3089\u304b\u3044\u300d\u72b6\u614b\u304c\u898b\u3089\u308c\u3001\u305d\u308c\u304c\u5f8c\u306e\u904b\u52d5\u767a\u9054\u306e\u9045\u308c\u306b\u7e4b\u304c\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>5. \u305d\u306e\u4ed6\u306e\u8eab\u4f53\u7684\u5408\u4f75\u75c7<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6210\u9577\u4e0d\u5168:<\/strong> \u51fa\u751f\u6642\u3088\u308a\u4f4e\u4f53\u91cd\u30fb\u4f4e\u8eab\u9577\u3067\u3042\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u305d\u306e\u5f8c\u3082\u6210\u9577\u66f2\u7dda\u306e\u4e0b\u9650\u3092\u8fbf\u308b\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u751f\u6b96\u5668\u7570\u5e38:<\/strong> \u7537\u5150\u306b\u304a\u3051\u308b\u505c\u7559\u7cbe\u5de3\u3084\u5c3f\u9053\u4e0b\u88c2\u3002<\/li>\n\n\n\n<li><strong>\u6f5c\u5728\u7684\u306a\u5185\u81d3\u5947\u5f62:<\/strong> \u983b\u5ea6\u306f\u4f4e\u3044\u3082\u306e\u306e\u3001\u5fc3\u5947\u5f62\u3084\u6ccc\u5c3f\u5668\u7cfb\u306e\u7570\u5e38\u304c\u5831\u544a\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u539f\u56e0<\/strong><\/h2>\n\n\n\n<p><strong>8q22.1\u9818\u57df\u306e\u5fae\u5c0f\u6b20\u5931\uff08\u5e38\u67d3\u8272\u4f53\u9855\u6027\u907a\u4f1d\u5f62\u5f0f\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u907a\u4f1d\u5f62\u5f0f:<\/strong><strong>\u5e38\u67d3\u8272\u4f53\u9855\u6027\uff08\u512a\u6027\uff09\u907a\u4f1d<\/strong> \u3067\u3059\u3002\n<ul class=\"wp-block-list\">\n<li>\u907a\u4f1d\u5b50\u306e\u30da\u30a2\uff082\u672c\uff09\u306e\u3046\u3061\u3001\u7247\u65b9\u306e\u67d3\u8272\u4f53\u306e\u8a72\u5f53\u9818\u57df\u304c\u5931\u308f\u308c\u308b\u3060\u3051\u3067\u767a\u75c7\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u65b0\u751f\u7a81\u7136\u5909\u7570\uff08De novo deletion\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u3053\u308c\u307e\u3067\u306b\u5831\u544a\u3055\u308c\u305f\u307b\u3068\u3093\u3069\u306e\u75c7\u4f8b\u306b\u304a\u3044\u3066\u3001\u4e21\u89aa\u306e\u67d3\u8272\u4f53\u306f\u6b63\u5e38\u3067\u3042\u308a\u3001\u53d7\u7cbe\u306e\u904e\u7a0b\u3067\u5076\u7136\u306b<strong>\u5fae\u5c0f\u6b20\u5931<\/strong>\u304c\u751f\u3058\u305f\u3082\u306e\u3067\u3059\u3002\u3057\u305f\u304c\u3063\u3066\u3001\u6b21\u306b\u751f\u307e\u308c\u308b\u304d\u3087\u3046\u3060\u3044\u3078\u306e\u518d\u767a\u30ea\u30b9\u30af\u306f\u6975\u3081\u3066\u4f4e\u3044\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5fae\u5c0f\u6b20\u5931\u306e\u30b5\u30a4\u30ba:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u6b20\u5931\u3059\u308b\u30b5\u30a4\u30ba\u306f\u75c7\u4f8b\u306b\u3088\u3063\u3066\u7570\u306a\u308a\u307e\u3059\u304c\u3001\u4e00\u822c\u7684\u306b\u306f\u6570\u30e1\u30ac\u30d9\u30fc\u30b9\uff08Mb\uff09\u7a0b\u5ea6\u306e\u7bc4\u56f2\u304c\u5931\u308f\u308c\u3066\u3044\u307e\u3059\u3002\u5931\u308f\u308c\u308b\u7bc4\u56f2\u304c\u5e83\u3044\u307b\u3069\u3001\u77e5\u7684\u969c\u5bb3\u3084\u5168\u8eab\u306e\u5947\u5f62\u304c\u91cd\u7be4\u306b\u306a\u308b\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u8a3a\u65ad\u65b9\u6cd5<\/strong><\/h2>\n\n\n\n<p>\u81e8\u5e8a\u7684\u306a\u5916\u898b\u7684\u7279\u5fb4\u306b\u57fa\u3065\u304d\u3001\u5206\u5b50\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u306b\u3088\u3063\u3066\u78ba\u5b9a\u8a3a\u65ad\u3092\u884c\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u81e8\u5e8a\u8a55\u4fa1:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u300c\u4eee\u9762\u306e\u3088\u3046\u306a\u8868\u60c5\u306e\u4e4f\u3057\u3055\u300d\u300c\u773c\u77bc\u88c2\u72ed\u5c0f\u300d\u300c\u624b\u8db3\u306e\u7570\u5e38\u300d\u306e\u4e09\u5fb4\u5019\u3092\u614e\u91cd\u306b\u8a55\u4fa1\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb\uff08CMA\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u78ba\u5b9a\u8a3a\u65ad\u306e\u30b4\u30fc\u30eb\u30c9\u30b9\u30bf\u30f3\u30c0\u30fc\u30c9<\/strong>\u3067\u3059\u30028q22.1\u9818\u57df\u306e<strong>\u5fae\u5c0f\u6b20\u5931<\/strong>\u3092\u6570\u4e07\u304b\u3089\u6570\u5341\u4e07\u306e\u30d7\u30ed\u30fc\u30d6\u3092\u7528\u3044\u3066\u691c\u51fa\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u753b\u50cf\u8a3a\u65ad:<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u624b\u8db3\u306e\u30ec\u30f3\u30c8\u30b2\u30f3:<\/strong> \u9aa8\u306e\u7652\u5408\u3084\u77ed\u7e2e\u3001\u722a\u306e\u5f62\u6210\u4e0d\u5168\u3092\u8a73\u7d30\u306b\u8a55\u4fa1\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u982d\u90e8MRI:<\/strong> \u8133\u306e\u69cb\u9020\u7684\u7570\u5e38\uff08\u8133\u6881\u306e\u7570\u5e38\u306a\u3069\uff09\u306e\u6709\u7121\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>\u6b6f\u79d1\u691c\u8a3a:<br>\u6b6f\u306e\u6b20\u640d\u3084\u5f62\u614b\u7570\u5e38\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u6cbb\u7642\u65b9\u6cd5<\/strong><\/h2>\n\n\n\n<p>\u73fe\u4ee3\u306e\u533b\u5b66\u306b\u304a\u3044\u3066\u3001\u5931\u308f\u308c\u305f\u67d3\u8272\u4f53\u9818\u57df\u3092\u88dc\u3046\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u6cbb\u7642\u306f\u3001\u6a5f\u80fd\u6539\u5584\u3068QOL\u306e\u5411\u4e0a\u3092\u76ee\u6307\u3057\u305f**\u300c\u591a\u8077\u7a2e\u9023\u643a\u306b\u3088\u308b\u5bfe\u75c7\u7642\u6cd5\u300d**\u304c\u4e2d\u5fc3\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u5916\u79d1\u7684\u6cbb\u7642<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u773c\u79d1\u7684\u624b\u8853:<\/strong> \u773c\u77bc\u4e0b\u5782\u304c\u8457\u3057\u304f\u3001\u8996\u754c\u304c\u906e\u3089\u308c\u3066\u5f31\u8996\u306e\u30ea\u30b9\u30af\u304c\u3042\u308b\u5834\u5408\u306f\u3001\u307e\u3076\u305f\u3092\u6301\u3061\u4e0a\u3052\u308b\u5f62\u6210\u624b\u8853\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5f62\u6210\u5916\u79d1\u7684\u624b\u8853:<\/strong> \u5408\u6307\u75c7\u306e\u5206\u96e2\u8853\u3084\u3001\u9854\u9762\u306e\u8edf\u90e8\u7d44\u7e54\u306e\u5f15\u304d\u3064\u308c\u3092\u548c\u3089\u3052\u308b\u51e6\u7f6e\u304c\u691c\u8a0e\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u76ae\u819a\u306e\u6027\u8cea\u4e0a\u3001\u614e\u91cd\u306a\u5224\u65ad\u304c\u6c42\u3081\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6b6f\u79d1\u7684\u6cbb\u7642:<\/strong> \u6b20\u640d\u6b6f\u306b\u5bfe\u3059\u308b\u7fa9\u6b6f\u3084\u3001\u30a4\u30f3\u30d7\u30e9\u30f3\u30c8\uff08\u6210\u9577\u5b8c\u4e86\u5f8c\uff09\u306b\u3088\u308b\u5480\u56bc\u6a5f\u80fd\u3068\u5916\u898b\u306e\u7dad\u6301\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\uff08\u7642\u80b2\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7406\u5b66\u7642\u6cd5\uff08PT\uff09\u304a\u3088\u3073\u4f5c\u696d\u7642\u6cd5\uff08OT\uff09:<\/strong> \u624b\u306e\u5668\u7528\u3055\u306e\u5411\u4e0a\u3001\u95a2\u7bc0\u306e\u53ef\u52d5\u57df\u8a13\u7df4\u3001\u304a\u3088\u3073\u904b\u52d5\u767a\u9054\u306e\u4fc3\u9032\u3002<\/li>\n\n\n\n<li><strong>\u8a00\u8a9e\u7642\u6cd5\uff08ST\uff09:<\/strong> \u8a00\u8449\u306e\u9045\u308c\u3084\u3001\u53e3\u5468\u308a\u306e\u7b4b\u8089\u306e\u4f7f\u3044\u306b\u304f\u3055\u306b\u3088\u308b\u69cb\u97f3\u969c\u5bb3\u306e\u6539\u5584\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u6559\u80b2\u652f\u63f4<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u77e5\u7684\u30ec\u30d9\u30eb\u3084\u500b\u3005\u306e\u5b66\u7fd2\u80fd\u529b\u306b\u5408\u308f\u305b\u305f\u7279\u5225\u652f\u63f4\u6559\u80b2\u3002<\/li>\n\n\n\n<li>\u8868\u60c5\u304c\u4f5c\u308a\u306b\u304f\u3044\u3053\u3068\u304c\u5bfe\u4eba\u95a2\u4fc2\u306b\u5f71\u97ff\u3092\u4e0e\u3048\u308b\u5834\u5408\u304c\u3042\u308b\u305f\u3081\u3001\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u30b9\u30ad\u30eb\u3092\u88dc\u5b8c\u3059\u308b\u652f\u63f4\uff08\u30b8\u30a7\u30b9\u30c1\u30e3\u30fc\u3084\u8996\u899a\u30c4\u30fc\u30eb\u306e\u6d3b\u7528\uff09\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u6210\u9577\u7ba1\u7406<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u5c0f\u5150\u5185\u5206\u6ccc\u79d1\u306b\u3088\u308b\u5b9a\u671f\u7684\u306a\u6210\u9577\u30e2\u30cb\u30bf\u30ea\u30f3\u30b0\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u4e88\u5f8c<\/strong><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u751f\u5b58\u671f\u9593:<\/strong> \u91cd\u7be4\u306a\u5185\u81d3\u5408\u4f75\u75c7\uff08\u5fc3\u75be\u60a3\u306a\u3069\uff09\u304c\u306a\u3051\u308c\u3070\u3001\u5bff\u547d\u305d\u306e\u3082\u306e\u306f\u4e00\u822c\u306e\u65b9\u3068\u5909\u308f\u3089\u306a\u3044\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u81ea\u7acb\u6027:<\/strong> \u77e5\u7684\u969c\u5bb3\u306e\u7a0b\u5ea6\u306b\u3088\u308a\u307e\u3059\u304c\u3001\u65e5\u5e38\u751f\u6d3b\u306b\u304a\u3044\u3066\u4e00\u5b9a\u306e\u30b5\u30dd\u30fc\u30c8\u304c\u5fc5\u8981\u306b\u306a\u308b\u5834\u5408\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u793e\u4f1a\u6027:<\/strong> \u8868\u60c5\u304c\u4e4f\u3057\u3044\u3053\u3068\u3067\u300c\u611f\u60c5\u304c\u306a\u3044\u300d\u3068\u8aa4\u89e3\u3055\u308c\u3084\u3059\u3044\u305f\u3081\u3001\u5468\u56f2\u306e\u6b63\u3057\u3044\u7406\u89e3\u3068\u7d99\u7d9a\u7684\u306a\u793e\u4f1a\u7684\u652f\u63f4\u304c\u3001\u672c\u4eba\u306e\u7cbe\u795e\u7684\u5065\u5eb7\u3092\u5b88\u308b\u4e0a\u3067\u4e0d\u53ef\u6b20\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u307e\u3068\u3081<\/strong><\/h2>\n\n\n\n<p>Nablus mask-like facial syndrome\uff08\u30ca\u30d6\u30eb\u30b9\u4eee\u9762\u69d8\u9854\u8c8c\u75c7\u5019\u7fa4\uff09\u306f\u30018\u756a\u67d3\u8272\u4f53\u306e\u7279\u5b9a\u306e\u90e8\u5206\u304c\u3001\u307b\u3093\u306e\u308f\u305a\u304b\u306b\u5931\u308f\u308c\u308b\u5fae\u5c0f\u6b20\u5931\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u3001\u4e16\u754c\u3067\u3082\u975e\u5e38\u306b\u73cd\u3057\u3044\u75c5\u6c17\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75c5\u6c17\u3092\u6301\u3064\u304a\u5b50\u69d8\u306f\u3001\u9854\u306e\u76ae\u819a\u3084\u7b4b\u8089\u306e\u6027\u8cea\u306b\u3088\u308a\u3001\u8868\u60c5\u306e\u5909\u5316\u304c\u5c11\u306a\u304f\u300c\u4eee\u9762\u3092\u304b\u3076\u3063\u3066\u3044\u308b\u3088\u3046\u306a\u300d\u72ec\u7279\u306e\u9854\u7acb\u3061\u306b\u306a\u308a\u307e\u3059\u3002\u307e\u305f\u3001\u76ee\u304c\u5c0f\u3055\u304b\u3063\u305f\u308a\u3001\u6307\u306b\u7279\u5fb4\u304c\u3042\u3063\u305f\u308a\u3059\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u300c\u7b11\u3063\u3066\u3044\u306a\u3044\u300d\u300c\u6012\u3063\u3066\u3044\u308b\u300d\u3068\u898b\u3048\u3066\u3082\u3001\u5fc3\u306e\u4e2d\u306f\u4ed6\u306e\u5b50\u3068\u540c\u3058\u3088\u3046\u306b\u8c4a\u304b\u3067\u3059\u3002\u305f\u3060\u3001\u305d\u308c\u3092\u9854\u306b\u51fa\u3059\u3053\u3068\u304c\u5c11\u3057\u82e6\u624b\u306a\u3060\u3051\u306a\u306e\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u73fe\u5728\u306f\u907a\u4f1d\u5b50\u691c\u67fb\u3067\u6b63\u78ba\u306a\u8a3a\u65ad\u3092\u3064\u3051\u308b\u3053\u3068\u304c\u3067\u304d\u3001\u773c\u79d1\u3084\u5f62\u6210\u5916\u79d1\u306e\u624b\u8853\u3001\u305d\u3057\u3066\u7642\u80b2\uff08\u30ea\u30cf\u30d3\u30ea\uff09\u3092\u7d44\u307f\u5408\u308f\u305b\u308b\u3053\u3068\u3067\u3001\u304a\u5b50\u69d8\u306e\u6301\u3063\u3066\u3044\u308b\u529b\u3092\u6700\u5927\u9650\u306b\u5f15\u304d\u51fa\u3059\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u60c5\u5831\u306e\u5c11\u306a\u3044\u5e0c\u5c11\u306a\u75be\u60a3\u3067\u3059\u304c\u3001\u5c02\u9580\u533b\u30c1\u30fc\u30e0\u3068\u3064\u306a\u304c\u308a\u3001\u4e00\u3064\u3072\u3068\u3064\u306e\u75c7\u72b6\u306b\u4e01\u5be7\u306b\u5411\u304d\u5408\u3063\u3066\u3044\u304f\u3053\u3068\u3067\u3001\u304a\u5b50\u69d8\u3068\u3054\u5bb6\u65cf\u304c\u5b89\u5fc3\u3057\u3066\u6b69\u3093\u3067\u3044\u3051\u308b\u9053\u304c\u898b\u3064\u304b\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u53c2\u8003\u6587\u732e\u5143<\/strong><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>Teebi, A. S.<\/strong> (2000). <em>Nablus mask-like facial syndrome.<\/em> American Journal of Medical Genetics.\n<ul class=\"wp-block-list\">\n<li>\uff08\u30ca\u30d6\u30eb\u30b9\u75c7\u5019\u7fa4\u3092\u521d\u3081\u3066\u4e00\u3064\u306e\u72ec\u7acb\u3057\u305f\u75be\u60a3\u3068\u3057\u3066\u5831\u544a\u30fb\u547d\u540d\u3057\u305f\u8a18\u5ff5\u7891\u7684\u8ad6\u6587\u3067\u3059\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Jain, M., et al.<\/strong> (2010). <em>Nablus mask-like facial syndrome: Report of a new case and review of the literature.<\/em> Clinical Dysmorphology.\n<ul class=\"wp-block-list\">\n<li>\uff08\u81e8\u5e8a\u7684\u7279\u5fb4\u306e\u6574\u7406\u3068\u3001\u65e2\u5831\u4f8b\u306e\u6bd4\u8f03\u691c\u8a0e\u3092\u884c\u3063\u3066\u3044\u308b\u91cd\u8981\u6587\u732e\u3067\u3059\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Mignot, C., et al.<\/strong> (2015). <em>The 8q22.1 microdeletion syndrome: clinical and molecular characterization of Nablus mask-like facial syndrome.<\/em> European Journal of Medical Genetics.\n<ul class=\"wp-block-list\">\n<li>\uff08\u30a2\u30ec\u30a4CGH\u3092\u7528\u3044\u30668q22.1\u5fae\u5c0f\u6b20\u5931\u3092\u8a3c\u660e\u3057\u3001\u5206\u5b50\u907a\u4f1d\u5b66\u7684\u306a\u80cc\u666f\u3092\u8a73\u7d30\u306b\u8a18\u8ff0\u3057\u305f\u8ad6\u6587\u3067\u3059\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>GeneReviews\u00ae [Internet]<\/strong>: <em>8q22.1 Microdeletion Syndrome (NMLFS)<\/em>. (NCBI).\n<ul class=\"wp-block-list\">\n<li>\uff08\u8a3a\u65ad\u3001\u7ba1\u7406\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306b\u95a2\u3059\u308b\u6700\u65b0\u306e\u6a19\u6e96\u7684\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\u3067\u3059\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Orphanet<\/strong>: <em>Nablus mask-like facial syndrome (ORPHA:91136)<\/em>.\n<ul class=\"wp-block-list\">\n<li>\uff08\u5e0c\u5c11\u75be\u60a3\u306e\u56fd\u969b\u7684\u306a\u30dd\u30fc\u30bf\u30eb\u30b5\u30a4\u30c8\u306b\u3088\u308b\u75c5\u614b\u6982\u8981\u3068\u30ea\u30bd\u30fc\u30b9\u60c5\u5831\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Unique (The Rare Chromosome Disorder Support Group)<\/strong>: <em>8q deletions: 8q22 microdeletions: A guide for families<\/em>.\n<ul class=\"wp-block-list\">\n<li>\uff08\u5e0c\u5c11\u67d3\u8272\u4f53\u7570\u5e38\u652f\u63f4\u56e3\u4f53\u306b\u3088\u308b\u3001\u3054\u5bb6\u65cf\u5411\u3051\u306e\u5b9f\u8df5\u7684\u30ac\u30a4\u30c9\u8cc7\u6599\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<style>\n.entry-content li {\n  text-indent: -1rem !important;\n}\n<\/style>\n<p>\u8a73\u3057\u304f\u306f <a href=\"https:\/\/www.hiro-clinic.or.jp\/gene\/clinic\/\">\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\u5168\u56fd\u306e\u30af\u30ea\u30cb\u30c3\u30af\u4e00\u89a7<\/a> \u3092\u3054\u89a7\u304f\u3060\u3055\u3044\u3002<\/p>","protected":false},"featured_media":0,"template":"","class_list":["post-17396","genetic-screening","type-genetic-screening","status-publish","hentry"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/17396","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening"}],"about":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/types\/genetic-screening"}],"version-history":[{"count":2,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/17396\/revisions"}],"predecessor-version":[{"id":17400,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/17396\/revisions\/17400"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=17396"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}