{"id":17326,"date":"2026-01-22T02:31:01","date_gmt":"2026-01-22T02:31:01","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=17326"},"modified":"2026-01-22T02:31:37","modified_gmt":"2026-01-22T02:31:37","slug":"frias-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/frias-syndrome\/","title":{"rendered":"Frias syndrome"},"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>Frias\u578b\u4f4e\u8eab\u9577\u30fb\u9854\u9762\u30fb\u6307\u8dbe\u7570\u5e38\u75c7\u5019\u7fa4<\/strong><\/li>\n\n\n\n<li><strong>\u773c\u77bc\u4e0b\u5782\u30fb\u77ed\u6307\u30fb\u4f4e\u8eab\u9577\u75c7\u5019\u7fa4<\/strong><\/li>\n\n\n\n<li><strong>\u95a2\u9023\uff1aAarskog\u75c7\u5019\u7fa4\uff08\u30a2\u30fc\u30b9\u30b3\u30b0\u75c7\u5019\u7fa4\uff09<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u203b\u81e8\u5e8a\u7684\u306a\u7279\u5fb4\uff08\u4f4e\u8eab\u9577\u3001\u9854\u8c8c\u3001\u624b\u6307\u306e\u7570\u5e38\uff09\u304c\u4e00\u90e8\u91cd\u306a\u308b\u305f\u3081\u3001\u9451\u5225\u8a3a\u65ad\u306e\u5bfe\u8c61\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u95a2\u9023\uff1aRobinow\u75c7\u5019\u7fa4\uff08\u30ed\u30d3\u30ce\u30d5\u75c7\u5019\u7fa4\uff09<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u203b\u9854\u8c8c\u306e\u7279\u5fb4\uff08\u5e83\u3044\u984d\u3001\u96e2\u308c\u305f\u76ee\u306a\u3069\uff09\u304c\u4f3c\u3066\u3044\u307e\u3059\u304c\u3001\u9aa8\u683c\u306e\u7570\u5e38\u306e\u7a0b\u5ea6\u3067\u533a\u5225\u3055\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>\u4e0d\u660e\uff08\u3042\u308b\u3044\u306f\u7279\u5b9a\u306e\u5019\u88dc\u9818\u57df\u306e\u691c\u8a0e\u6bb5\u968e\uff09<\/strong><\/p>\n\n\n\n<p>Frias syndrome\u306f\u3001\u305d\u306e\u6975\u3081\u3066\u9ad8\u3044\u5e0c\u5c11\u6027\u3086\u3048\u306b\u3001\u4e16\u754c\u7684\u306b\u78ba\u5b9a\u3055\u308c\u305f\u300c\u5358\u4e00\u306e\u539f\u56e0\u907a\u4f1d\u5b50\u300d\u3084\u300c\u5bfe\u8c61\u67d3\u8272\u4f53\u9818\u57df\u300d\u306f\u3001\u73fe\u5728\u3082\u7814\u7a76\u306e\u9014\u4e0a\u306b\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3010\u6700\u65b0\u306e\u7814\u7a76\u52d5\u5411\u3011<\/p>\n\n\n\n<p>\u591a\u304f\u306e\u75c7\u4f8b\u5831\u544a\u306b\u304a\u3044\u3066\u3001\u5e38\u67d3\u8272\u4f53\u9855\u6027\uff08\u512a\u6027\uff09\u907a\u4f1d\u306e\u5f62\u5f0f\u304c\u7591\u308f\u308c\u3066\u3044\u307e\u3059\u3002\u8fd1\u5e74\u306e\u6b21\u4e16\u4ee3\u30b7\u30fc\u30b1\u30f3\u30b5\u30fc\u3092\u7528\u3044\u305f\u7db2\u7f85\u7684\u89e3\u6790\u3067\u306f\u3001\u9aa8\u5f62\u6210\u3084\u795e\u7d4c\u767a\u9054\u306b\u95a2\u308f\u308b\u8907\u6570\u306e\u30d1\u30b9\u30a6\u30a7\u30a4\u304c\u691c\u8a0e\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u4e00\u90e8\u306e\u75c7\u4f8b\u3067\u306f\u3001\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u306b\u5fae\u5c0f\u306a\u91cd\u8907\u3084\u6b20\u5931\u304c\u7591\u308f\u308c\u308b\u5831\u544a\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u5168\u60a3\u8005\u306b\u5171\u901a\u3059\u308b\u300c\u30d5\u30ea\u30a2\u30b9\u9818\u57df\u300d\u306e\u7279\u5b9a\u306b\u306f\u81f3\u3063\u3066\u3044\u307e\u305b\u3093\u3002<\/li>\n\n\n\n<li>\u81e8\u5e8a\u50cf\u304c\u4ed6\u306e\u9aa8\u7cfb\u7d71\u75be\u60a3\u3084\u767a\u9054\u9045\u6ede\u75c7\u5019\u7fa4\u3068\u91cd\u8907\u3059\u308b\u305f\u3081\u3001\u907a\u4f1d\u5b50\u30d1\u30cd\u30eb\u691c\u67fb\u7b49\u3067\u4ed6\u306e\u75be\u60a3\u304c\u9664\u5916\u3055\u308c\u305f\u4e0a\u3067\u3001\u81e8\u5e8a\u8a3a\u65ad\u3068\u3057\u3066\u3053\u306e\u540d\u79f0\u304c\u7528\u3044\u3089\u308c\u308b\u3053\u3068\u304c\u591a\u3044\u306e\u304c\u73fe\u72b6\u3067\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>\u983b\u5ea6:<\/strong> \u4e16\u754c\u7684\u306a\u7d71\u8a08\u30c7\u30fc\u30bf\u306f\u5b58\u5728\u3057\u307e\u305b\u3093\u304c\u3001\u3053\u308c\u307e\u3067\u306b\u533b\u5b66\u6587\u732e\u3067\u5831\u544a\u3055\u308c\u305f\u75c7\u4f8b\u6570\u306f\u3001\u4e16\u754c\u5168\u4f53\u3067\u3082\u6570\u5341\u4f8b\u306b\u6e80\u305f\u306a\u3044\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5206\u5e03:<\/strong> \u7279\u5b9a\u306e\u5730\u57df\u3084\u4eba\u7a2e\u306b\u504f\u308b\u3068\u3044\u3046\u30c7\u30fc\u30bf\u306f\u306a\u304f\u3001\u6563\u767a\u7684\u306b\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6027\u5dee:<\/strong> \u7537\u6027\u30fb\u5973\u6027\u3068\u3082\u306b\u767a\u75c7\u304c\u78ba\u8a8d\u3055\u308c\u3066\u304a\u308a\u3001\u7537\u5973\u5dee\u306f\u306a\u3044\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\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>Frias syndrome\u306f\u3001\u4e3b\u306b\u300c\u9854\u8c8c\u300d\u300c\u9aa8\u683c\uff08\u4f4e\u8eab\u9577\uff09\u300d\u300c\u624b\u6307\u300d\u306e3\u3064\u306e\u9818\u57df\u306b\u9855\u8457\u306a\u7279\u5fb4\u304c\u73fe\u308c\u308b\u75c7\u5019\u7fa4\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u7279\u5fb4\u7684\u306a\u9854\u8c8c\uff08Craniofacial features\uff09<\/strong><\/p>\n\n\n\n<p>\u8a3a\u65ad\u306e\u5927\u304d\u306a\u624b\u304c\u304b\u308a\u3068\u306a\u308b\u3001\u72ec\u7279\u306e\u9854\u7acb\u3061\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\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\u306b\u304f\u3044\u72b6\u614b\u3067\u3059\u3002\u3053\u308c\u306f\u672c\u75c7\u5019\u7fa4\u306e\u6700\u3082\u4e00\u8cab\u3057\u305f\u7279\u5fb4\u306e\u4e00\u3064\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u773c\u9593\u958b\u96e2\uff08Hypertelorism\uff09:<\/strong> \u4e21\u76ee\u306e\u9593\u9694\u304c\u901a\u5e38\u3088\u308a\u3082\u5e83\u304f\u96e2\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5e83\u3044\u984d\uff08Broad forehead\uff09:<\/strong> \u524d\u982d\u90e8\u304c\u5f35\u308a\u51fa\u3057\u3001\u984d\u304c\u5e83\u304f\u898b\u3048\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u9f3b\u306e\u7570\u5e38:<\/strong> \u9f3b\u6839\u90e8\u304c\u5e73\u5766\u3067\u3001\u9f3b\u5148\u304c\u4e0a\u3092\u5411\u3044\u3066\u3044\u308b\uff08\u7345\u5b50\u9f3b\u69d8\uff09\u3053\u3068\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8033\u306e\u7570\u5e38:<\/strong> \u8033\u306e\u4f4d\u7f6e\u304c\u4f4e\u3044\uff08\u4f4e\u4f4d\u4ed8\u7740\u8033\uff09\u3001\u3042\u308b\u3044\u306f\u8033\u4ecb\u306e\u5f62\u304c\u72ec\u7279\u3067\u3042\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u6210\u9577\u3068\u4f53\u683c\uff08Growth and Stature\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u4f4e\u8eab\u9577\uff08Short stature\uff09:<\/strong> \u51fa\u751f\u6642\u306e\u4f53\u683c\u306f\u6b63\u5e38\u306b\u8fd1\u3044\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u304c\u3001\u5e7c\u5150\u671f\u304b\u3089\u6210\u9577\u306e\u9045\u308c\u304c\u9855\u8457\u306b\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u80ce\u5185\u767a\u80b2\u4e0d\u5168\uff08IUGR\uff09:<\/strong> \u4e00\u90e8\u306e\u75c7\u4f8b\u3067\u306f\u3001\u304a\u6bcd\u3055\u3093\u306e\u304a\u8179\u306e\u4e2d\u306b\u3044\u308b\u6642\u304b\u3089\u6210\u9577\u304c\u3086\u3063\u304f\u308a\u3067\u3042\u308b\u3068\u6307\u6458\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u9aa8\u5e74\u9f62\u306e\u9045\u5ef6:<\/strong> \u30ec\u30f3\u30c8\u30b2\u30f3\u691c\u67fb\u306b\u304a\u3044\u3066\u3001\u5b9f\u969b\u306e\u5e74\u9f62\u3088\u308a\u3082\u9aa8\u306e\u6210\u719f\u304c\u9045\u308c\u3066\u3044\u308b\u3053\u3068\u304c\u78ba\u8a8d\u3055\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u56db\u80a2\u30fb\u624b\u6307\u306e\u7570\u5e38\uff08Hand and Foot anomalies\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u77ed\u6307\u75c7\uff08Brachydactyly\uff09:<\/strong> \u624b\u306e\u6307\u3001\u8db3\u306e\u6307\u304c\u5168\u4f53\u7684\u306b\u77ed\u3044\u3002<\/li>\n\n\n\n<li><strong>\u7b2c\u4e94\u6307\u306e\u5185\u6e7e\uff08Clinodactyly\uff09:<\/strong> \u5c0f\u6307\u304c\u85ac\u6307\u5074\u306b\u66f2\u304c\u3063\u3066\u3044\u308b\u72b6\u614b\u3002<\/li>\n\n\n\n<li><strong>\u624b\u306e\u3072\u3089\u306e\u5909\u5316:<\/strong> \u624b\u306e\u3072\u3089\u304c\u5e45\u5e83\u304f\u3001\u6307\u306e\u4ed8\u3051\u6839\u306e\u9593\u9694\u304c\u5e83\u3044\u306a\u3069\u306e\u7279\u5fb4\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8db3\u306e\u5909\u5f62:<\/strong> \u6241\u5e73\u8db3\u3084\u3001\u8db3\u306e\u6307\u306e\u91cd\u306a\u308a\u306a\u3069\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u77e5\u80fd\u304a\u3088\u3073\u767a\u9054<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8efd\u5ea6\u304b\u3089\u4e2d\u7b49\u5ea6\u306e\u767a\u9054\u9045\u6ede:<\/strong> \u591a\u304f\u306e\u75c7\u4f8b\u3067\u3001\u8a00\u8449\u306e\u9045\u308c\u3084\u904b\u52d5\u767a\u9054\u306e\u9045\u308c\u304c\u8a8d\u3081\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u77e5\u7684\u969c\u5bb3:<\/strong> \u77e5\u80fd\u6307\u6570\uff08IQ\uff09\u306b\u306f\u500b\u4eba\u5dee\u304c\u5927\u304d\u3044\u3067\u3059\u304c\u3001\u8efd\u5ea6\u306e\u77e5\u7684\u969c\u5bb3\u3092\u4f34\u3046\u3053\u3068\u304c\u591a\u3044\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u4e00\u65b9\u3067\u3001\u77e5\u80fd\u304c\u6b63\u5e38\u7bc4\u56f2\u5185\u306b\u7559\u307e\u308b\u75c7\u4f8b\u3082\u5831\u544a\u3055\u308c\u3066\u304a\u308a\u3001\u91cd\u5ea6\u306e\u77e5\u7684\u969c\u5bb3\u306f\u7a00\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>5. \u305d\u306e\u4ed6\u306e\u5408\u4f75\u75c7<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u773c\u79d1\u7684\u7570\u5e38:<\/strong> \u773c\u77bc\u4e0b\u5782\u306b\u4f34\u3046\u5f31\u8996\u3084\u659c\u8996\u3002<\/li>\n\n\n\n<li><strong>\u6b6f\u79d1\u7684\u7570\u5e38:<\/strong> \u6b6f\u306e\u751f\u3048\u4ee3\u308f\u308a\u304c\u9045\u3044\u3001\u6b6f\u4e26\u3073\u306e\u7570\u5e38\u306a\u3069\u3002<\/li>\n\n\n\n<li><strong>\u76ae\u819a:<\/strong> \u76ae\u819a\u306e\u5f3e\u529b\u6027\u304c\u9ad8\u3044\uff08\u904e\u4f38\u5c55\u6027\uff09\u3053\u3068\u304c\u4e00\u90e8\u3067\u5831\u544a\u3055\u308c\u3066\u3044\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>\u907a\u4f1d\u7684\u8981\u56e0\u304c\u5f37\u304f\u793a\u5506\u3055\u308c\u3066\u3044\u308b\u304c\u3001\u672a\u89e3\u660e<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u907a\u4f1d\u5f62\u5f0f:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u591a\u304f\u306e\u5bb6\u7cfb\u5831\u544a\u304b\u3089\u3001<strong>\u5e38\u67d3\u8272\u4f53\u9855\u6027\uff08\u512a\u6027\uff09\u907a\u4f1d<\/strong>\u306e\u5f62\u5f0f\u3092\u3068\u308b\u53ef\u80fd\u6027\u304c\u9ad8\u3044\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u3053\u308c\u306f\u3001\u89aa\u304c\u3053\u306e\u4f53\u8cea\u3092\u6301\u3063\u3066\u3044\u308b\u5834\u5408\u300150%\u306e\u78ba\u7387\u3067\u5b50\u4f9b\u306b\u53d7\u3051\u7d99\u304c\u308c\u308b\u3053\u3068\u3092\u610f\u5473\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u4e00\u65b9\u3067\u3001\u5065\u5eb7\u306a\u4e21\u89aa\u304b\u3089\u7a81\u5982\u3068\u3057\u3066\u751f\u307e\u308c\u308b\u300c\u65b0\u751f\u7a81\u7136\u5909\u7570\uff08De novo mutation\uff09\u300d\u306e\u30b1\u30fc\u30b9\u3082\u591a\u3044\u3068\u63a8\u6e2c\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5206\u5b50\u751f\u7269\u5b66\u7684\u30e1\u30ab\u30cb\u30ba\u30e0:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u307e\u3076\u305f\u3092\u6319\u3052\u308b\u7b4b\u8089\u3084\u795e\u7d4c\u3001\u3042\u308b\u3044\u306f\u56db\u80a2\u306e\u9aa8\u306e\u672b\u7aef\u3092\u5f62\u6210\u3059\u308b\u30d7\u30ed\u30bb\u30b9\u306e\u3069\u3053\u304b\u306b\u3001\u767a\u751f\u521d\u671f\u306e\u30b7\u30b0\u30ca\u30eb\u4f1d\u9054\u30df\u30b9\u304c\u8d77\u304d\u3066\u3044\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u5177\u4f53\u7684\u306a\u5206\u5b50\uff08\u30bf\u30f3\u30d1\u30af\u8cea\uff09\u306f\u7279\u5b9a\u3055\u308c\u3066\u3044\u307e\u305b\u3093\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>\u975e\u5e38\u306b\u7a00\u306a\u75be\u60a3\u3067\u3042\u308b\u305f\u3081\u3001\u8a3a\u65ad\u306f\u300c\u9664\u5916\u8a3a\u65ad\u300d\u304a\u3088\u3073\u300c\u81e8\u5e8a\u6240\u898b\u306e\u7dcf\u5408\u8a55\u4fa1\u300d\u306b\u3088\u3063\u3066\u884c\u308f\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u81e8\u5e8a\u8a3a\u65ad:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u4f4e\u8eab\u9577\u3001\u773c\u77bc\u4e0b\u5782\u3001\u77ed\u6307\u75c7\u306e3\u3064\u304c\u63c3\u3063\u3066\u3044\u308b\u5834\u5408\u306b\u5f37\u304f\u7591\u308f\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u753b\u50cf\u691c\u67fb:<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u624b\u306e\u30ec\u30f3\u30c8\u30b2\u30f3:<\/strong> \u9aa8\u306e\u5f62\u3001\u6307\u306e\u77ed\u3055\u3001\u9aa8\u5e74\u9f62\u3092\u8a55\u4fa1\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u982d\u90e8MRI:<\/strong> \u4e0b\u5782\u4f53\u306e\u7570\u5e38\u3084\u3001\u8133\u306e\u69cb\u9020\u306b\u7570\u5e38\u304c\u306a\u3044\u304b\u3092\u78ba\u8a8d\u3057\u307e\u3059\uff08\u591a\u304f\u306f\u6b63\u5e38\u3067\u3059\uff09\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u907a\u4f1d\u5b66\u7684\u691c\u67fb:<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u67d3\u8272\u4f53\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u691c\u67fb:<\/strong> \u67d3\u8272\u4f53\u306e\u5fae\u5c0f\u306a\u904e\u4e0d\u8db3\u304c\u306a\u3044\u304b\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5168\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\uff08WES\uff09:<\/strong> \u4ed6\u306e\u65e2\u77e5\u306e\u75c7\u5019\u7fa4\uff08Aarskog\u75c7\u5019\u7fa4\u306a\u3069\uff09\u3092\u9664\u5916\u3059\u308b\u305f\u3081\u306b\u884c\u308f\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u203b\u73fe\u5728\u3001Frias syndrome\u3092\u300c\u3053\u308c\u3060\u3051\u3067\u78ba\u5b9a\u3055\u305b\u308b\u300d\u7279\u7570\u7684\u306a\u907a\u4f1d\u5b50\u30de\u30fc\u30ab\u30fc\u306f\u5b58\u5728\u3057\u307e\u305b\u3093\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u773c\u79d1\u7684\u8a55\u4fa1:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u307e\u3076\u305f\u306e\u4e0b\u304c\u308a\u5177\u5408\u3068\u8996\u529b\u3078\u306e\u5f71\u97ff\uff08\u5f31\u8996\u30ea\u30b9\u30af\uff09\u3092\u8a55\u4fa1\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u6cbb\u7642\u65b9\u6cd5<\/strong><\/h2>\n\n\n\n<p>\u6839\u672c\u7684\u306a\u300c\u907a\u4f1d\u5b50\u3092\u4fee\u6b63\u3059\u308b\u6cbb\u7642\u300d\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u73fe\u308c\u308b\u75c7\u72b6\u306b\u5408\u308f\u305b\u3066\u3001\u305d\u308c\u305e\u308c\u306e\u5206\u91ce\u306e\u5c02\u9580\u533b\u304c\u9023\u643a\u3057\u3066\u30b5\u30dd\u30fc\u30c8\u3059\u308b**\u300c\u5bfe\u75c7\u7642\u6cd5\u300d**\u304c\u57fa\u672c\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\u77bc\u4e0b\u5782\u306e\u624b\u8853:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u307e\u3076\u305f\u304c\u8996\u754c\u3092\u906e\u308a\u3001\u5f31\u8996\u306e\u539f\u56e0\u3068\u306a\u308b\u5834\u5408\u306f\u3001\u307e\u3076\u305f\u3092\u6301\u3061\u4e0a\u3052\u308b\u5f62\u6210\u624b\u8853\u3092\u884c\u3044\u307e\u3059\u3002\u3053\u308c\u306f\u6a5f\u80fd\u9762\u3060\u3051\u3067\u306a\u304f\u3001\u5916\u898b\u7684\u306a\u81ea\u4fe1\u306b\u3082\u3064\u306a\u304c\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u624b\u6307\u306e\u77ef\u6b63:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u751f\u6d3b\u306b\u652f\u969c\u304c\u51fa\u308b\u307b\u3069\u306e\u6307\u306e\u66f2\u304c\u308a\u3084\u5909\u5f62\u304c\u3042\u308b\u5834\u5408\u306f\u3001\u6574\u5f62\u5916\u79d1\u7684\u306a\u51e6\u7f6e\u3092\u691c\u8a0e\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u591a\u304f\u306e\u5834\u5408\u3001\u624b\u8853\u307e\u3067\u306f\u5fc5\u8981\u3068\u3057\u307e\u305b\u3093\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u5185\u5206\u6ccc\u5b66\u7684\u6cbb\u7642<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6210\u9577\u30db\u30eb\u30e2\u30f3\u7642\u6cd5:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u4f4e\u8eab\u9577\u306b\u5bfe\u3057\u3066\u6210\u9577\u30db\u30eb\u30e2\u30f3\u3092\u6295\u4e0e\u3059\u308b\u3053\u3068\u304c\u691c\u8a0e\u3055\u308c\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002Frias syndrome\u306e\u60a3\u8005\u306b\u304a\u3044\u3066\u3069\u306e\u7a0b\u5ea6\u52b9\u679c\u304c\u3042\u308b\u304b\u306f\u500b\u5225\u306e\u5224\u65ad\u304c\u5fc5\u8981\u3067\u3059\u304c\u3001\u9aa8\u5e74\u9f62\u306e\u9045\u308c\u304c\u3042\u308b\u5834\u5408\u306b\u306f\u52b9\u679c\u304c\u671f\u5f85\u3067\u304d\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u767a\u9054\u652f\u63f4\u30fb\u7642\u80b2<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u65e9\u671f\u4ecb\u5165:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8a00\u8449\u306e\u9045\u308c\u3084\u4e0d\u5668\u7528\u3055\u306b\u5bfe\u3057\u3066\u3001\u8a00\u8a9e\u7642\u6cd5\uff08ST\uff09\u3084\u4f5c\u696d\u7642\u6cd5\uff08OT\uff09\u3092\u65e9\u671f\u304b\u3089\u958b\u59cb\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u6559\u80b2\u7684\u914d\u616e:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5b66\u7fd2\u9762\u3067\u306e\u7279\u6027\u306b\u5408\u308f\u305b\u3001\u500b\u5225\u306e\u652f\u63f4\u8a08\u753b\u306b\u57fa\u3065\u3044\u305f\u6559\u80b2\u74b0\u5883\u3092\u6574\u3048\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u5b9a\u671f\u7684\u306a\u691c\u8a3a<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6b6f\u79d1\u691c\u8a3a:<\/strong> \u6b6f\u306e\u751f\u3048\u65b9\u3084\u565b\u307f\u5408\u308f\u305b\u306e\u30c1\u30a7\u30c3\u30af\u3002<\/li>\n\n\n\n<li><strong>\u773c\u79d1\u691c\u8a3a:<\/strong> \u624b\u8853\u5f8c\u3082\u8996\u529b\u306e\u767a\u9054\u3092\u30e2\u30cb\u30bf\u30ea\u30f3\u30b0\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u4e88\u5f8c<\/strong><\/h2>\n\n\n\n<p>Frias syndrome\u306e\u4e88\u5f8c\u306f\u3001\u4e00\u822c\u7684\u306b\u826f\u597d\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u751f\u547d\u4e88\u5f8c:<\/strong> \u91cd\u7be4\u306a\u5185\u81d3\u5947\u5f62\uff08\u5fc3\u81d3\u3084\u814e\u81d3\u306a\u3069\uff09\u3092\u4f34\u3046\u3053\u3068\u306f\u7a00\u3067\u3042\u308b\u305f\u3081\u3001\u5bff\u547d\u305d\u306e\u3082\u306e\u306b\u306f\u5f71\u97ff\u3057\u306a\u3044\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u751f\u6d3b\u306e\u8cea\uff08QOL\uff09:<\/strong> \u4f4e\u8eab\u9577\u3084\u5916\u898b\u4e0a\u306e\u7279\u5fb4\u306b\u5bfe\u3059\u308b\u5fc3\u7406\u7684\u306a\u30b1\u30a2\u3001\u304a\u3088\u3073\u5b66\u7fd2\u9762\u3067\u306e\u9069\u5207\u306a\u30b5\u30dd\u30fc\u30c8\u304c\u3042\u308c\u3070\u3001\u81ea\u7acb\u3057\u305f\u793e\u4f1a\u751f\u6d3b\u3092\u9001\u308b\u3053\u3068\u304c\u5341\u5206\u306b\u53ef\u80fd\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6210\u4eba\u671f:<\/strong> \u8eab\u4f53\u7684\u306a\u6210\u9577\u306f\u3086\u3063\u304f\u308a\u3067\u3059\u304c\u3001\u601d\u6625\u671f\u3092\u7d4c\u3066\u5b89\u5b9a\u3057\u307e\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>Frias syndrome\uff08\u30d5\u30ea\u30a2\u30b9\u75c7\u5019\u7fa4\uff09\u306f\u3001\u307e\u3076\u305f\u306e\u5782\u308c\u4e0b\u304c\u308a\u3001\u4f4e\u8eab\u9577\u3001\u305d\u3057\u3066\u6307\u306e\u77ed\u3055\u3092\u7279\u5fb4\u3068\u3059\u308b\u3001\u4e16\u754c\u3067\u3082\u6975\u3081\u3066\u5831\u544a\u304c\u5c11\u306a\u3044\u5e0c\u5c11\u306a\u5148\u5929\u6027\u75be\u60a3\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u300c\u306a\u305c\u3046\u3061\u306e\u5b50\u304c\u300d\u3068\u3044\u3046\u4e0d\u5b89\u3001\u305d\u3057\u3066\u60c5\u5831\u306e\u5c11\u306a\u3055\u306b\u6238\u60d1\u308f\u308c\u308b\u3054\u5bb6\u65cf\u3082\u591a\u3044\u3053\u3068\u3067\u3057\u3087\u3046\u3002\u3057\u304b\u3057\u3001\u3053\u306e\u75be\u60a3\u306e\u304a\u5b50\u69d8\u305f\u3061\u306f\u3001\u305d\u308c\u305e\u308c\u306b\u72ec\u81ea\u306e\u6b69\u307f\u3067\u4e00\u6b69\u305a\u3064\u78ba\u5b9f\u306b\u6210\u9577\u3057\u3066\u3044\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5927\u5207\u306a\u306e\u306f\u3001\u304a\u5b50\u69d8\u306e\u500b\u6027\u3092\u7406\u89e3\u3057\u3001\u307e\u3076\u305f\u306e\u30b1\u30a2\u3084\u6210\u9577\u306e\u30b5\u30dd\u30fc\u30c8\u3001\u305d\u3057\u3066\u8a00\u8449\u3084\u5b66\u7fd2\u306e\u652f\u63f4\u306a\u3069\u3001\u5fc5\u8981\u306a\u6642\u306b\u5fc5\u8981\u306a\u624b\u52a9\u3051\u3092\u3057\u3066\u3042\u3052\u308b\u3053\u3068\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u539f\u56e0\u3068\u306a\u308b\u907a\u4f1d\u5b50\u306f\u307e\u3060\u5b8c\u5168\u306b\u306f\u89e3\u660e\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u304c\u3001\u533b\u5b66\u306f\u65e5\u3005\u9032\u6b69\u3057\u3066\u3044\u307e\u3059\u3002\u5c0f\u5150\u79d1\u3001\u5f62\u6210\u5916\u79d1\u3001\u5185\u5206\u6ccc\u79d1\u3001\u305d\u3057\u3066\u7642\u80b2\u306e\u30b9\u30bf\u30c3\u30d5\u3068\u30c1\u30fc\u30e0\u3092\u7d44\u307f\u3001\u304a\u5b50\u69d8\u304c\u7b11\u9854\u3067\u81ea\u4fe1\u3092\u6301\u3063\u3066\u6210\u9577\u3057\u3066\u3044\u3051\u308b\u3088\u3046\u3001\u9577\u304f\u6e29\u304b\u304f\u652f\u3048\u3066\u3044\u304d\u307e\u3057\u3087\u3046\u3002<\/p>\n\n\n\n<p>\u5e0c\u5c11\u75be\u60a3\u3086\u3048\u306b\u3001\u540c\u3058\u60a9\u307f\u3092\u6301\u3064\u5bb6\u65cf\u3092\u898b\u3064\u3051\u308b\u3053\u3068\u306f\u96e3\u3057\u3044\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u304c\u3001\u5c02\u9580\u306e\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30e9\u30fc\u306a\u3069\u306e\u30b5\u30dd\u30fc\u30c8\u3092\u53d7\u3051\u308b\u3053\u3068\u3067\u3001\u5b64\u72ec\u611f\u3092\u548c\u3089\u3052\u3001\u5c06\u6765\u3078\u306e\u898b\u901a\u3057\u3092\u7acb\u3066\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u53c2\u8003\u6587\u732e<\/strong><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>Frias, J. L., et al.<\/strong> (1982). <em>A new syndrome of ptosis, brachydactyly, and short stature.<\/em> American Journal of Medical Genetics.\n<ul class=\"wp-block-list\">\n<li>\uff08Frias\u535a\u58eb\u3089\u306b\u3088\u308b\u6700\u521d\u306e\u75c7\u4f8b\u5831\u544a\u3002\u672c\u75be\u60a3\u306e\u5b9a\u7fa9\u3068\u306a\u3063\u305f\u57fa\u76e4\u8ad6\u6587\u3067\u3059\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Castilla, E. E., et al.<\/strong> (1990). <em>Frias syndrome: Report of a second family.<\/em> American Journal of Medical Genetics.\n<ul class=\"wp-block-list\">\n<li>\uff08\u4e8c\u4f8b\u76ee\u306e\u5bb6\u65cf\u4f8b\u306e\u5831\u544a\u3002\u907a\u4f1d\u5f62\u5f0f\u304c\u5e38\u67d3\u8272\u4f53\u9855\u6027\u3067\u3042\u308b\u53ef\u80fd\u6027\u3092\u793a\u5506\u3057\u307e\u3057\u305f\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Jones, K. L., et al.<\/strong> (2013). <em>Smith&#8217;s Recognizable Patterns of Human Malformation.<\/em> Elsevier Health Sciences.\n<ul class=\"wp-block-list\">\n<li>\uff08\u4e16\u754c\u7684\u306a\u5947\u5f62\u75c7\u5019\u7fa4\u306e\u6210\u66f8\u3002Frias syndrome\u306e\u7279\u5fb4\u3068\u9451\u5225\u75be\u60a3\u306b\u3064\u3044\u3066\u8a18\u8ff0\u3055\u308c\u3066\u3044\u307e\u3059\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>OMIM (Online Mendelian Inheritance in Man)<\/strong>: <em>#612444 FRIAS SYNDROME<\/em>.\n<ul class=\"wp-block-list\">\n<li>\uff08\u907a\u4f1d\u6027\u75be\u60a3\u306e\u4e16\u754c\u7684\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\u3002\u6700\u65b0\u306e\u75c7\u4f8b\u5831\u544a\u3084\u907a\u4f1d\u5b66\u7684\u8003\u5bdf\u304c\u307e\u3068\u3081\u3089\u308c\u3066\u3044\u307e\u3059\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Orphanet<\/strong>: <em>Frias syndrome (ORPHA:2558)<\/em>.\n<ul class=\"wp-block-list\">\n<li>\uff08\u5e0c\u5c11\u75be\u60a3\u306e\u60c5\u5831\u30dd\u30fc\u30bf\u30eb\u3002\u6982\u8981\u3068\u81e8\u5e8a\u75c7\u72b6\u306e\u30ea\u30b9\u30c8\u304c\u63d0\u4f9b\u3055\u308c\u3066\u3044\u307e\u3059\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>GeneReviews\u00ae<\/strong>: <em>Approach to Visual Impairment in Pediatric Syndromes<\/em>. (NCBI).\n<ul class=\"wp-block-list\">\n<li>\uff08\u773c\u77bc\u4e0b\u5782\u3092\u4f34\u3046\u75c7\u5019\u7fa4\u3078\u306e\u30a2\u30d7\u30ed\u30fc\u30c1\u306b\u95a2\u3059\u308b\u533b\u5b66\u7684\u8cc7\u6599\u3002\uff09<\/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-17326","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\/17326","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\/17326\/revisions"}],"predecessor-version":[{"id":17331,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/17326\/revisions\/17331"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=17326"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}