{"id":122491,"date":"2026-01-14T09:30:06","date_gmt":"2026-01-14T00:30:06","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=122491"},"modified":"2026-03-27T14:29:21","modified_gmt":"2026-03-27T05:29:21","slug":"antley-bixler-syndrome-fgfr2-variant","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/antley-bixler-syndrome-fgfr2-variant\/","title":{"rendered":"Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis"},"content":{"rendered":"\n<p>Antley-Bixler\u75c7\u5019\u7fa4\uff08ABS\uff09\u306f\u3001\u72ec\u7279\u306a\u9854\u8c8c\u3001\u982d\u84cb\u9aa8\u65e9\u671f\u7652\u5408\u3001\u305d\u3057\u3066\u56db\u80a2\u306e\u9aa8\u683c\u7570\u5e38\u3092\u4e3b\u5fb4\u3068\u3059\u308b\u6975\u3081\u3066\u7a00\u306a\u5148\u5929\u6027\u75be\u60a3\u3067\u3059\u3002\u3057\u304b\u3057\u3001\u8fd1\u5e74\u306e\u907a\u4f1d\u5b66\u7814\u7a76\u306b\u3088\u308a\u3001ABS\u3068\u3044\u3046\u540d\u79f0\u306e\u4e0b\u306b\u306f\u3001\u5168\u304f\u7570\u306a\u308b\u4e8c\u3064\u306e\u75c5\u614b\u304c\u5b58\u5728\u3059\u308b\u3053\u3068\u304c\u660e\u3089\u304b\u306b\u306a\u308a\u307e\u3057\u305f\u3002<\/p>\n\n\n\n<p>\u4e00\u3064\u306f\u3001\u30b9\u30c6\u30ed\u30a4\u30c9\u4ee3\u8b1d\u7570\u5e38\u3068\u6027\u5668\u7570\u5e38\u3092\u4f34\u3046\u300cPOR\uff08\u30c1\u30c8\u30af\u30ed\u30fc\u30e0P450\u9084\u5143\u9175\u7d20\uff09\u6b20\u640d\u75c7\u300d\u306b\u3088\u308b\u3082\u306e\u3002\u305d\u3057\u3066\u3082\u3046\u4e00\u3064\u304c\u3001\u672c\u8a18\u4e8b\u306e\u4e3b\u984c\u3067\u3042\u308b\u300c\u6027\u5668\u7570\u5e38\u3084\u30b9\u30c6\u30ed\u30a4\u30c9\u4ee3\u8b1d\u7570\u5e38\u3092\u4f34\u308f\u306a\u3044\u30bf\u30a4\u30d7\uff08FGFR2\u5909\u7570\u578b\uff09\u300d\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u30bf\u30a4\u30d7\u306f\u7d14\u7c8b\u306a\u9aa8\u683c\u5f62\u6210\u306e\u969c\u5bb3\u3067\u3042\u308a\u3001\u5185\u5206\u6ccc\u5b66\u7684\u306a\u7570\u5e38\u3092\u542b\u307e\u306a\u3044\u305f\u3081\u3001\u5916\u79d1\u7684\u306a\u4ecb\u5165\u3068\u9577\u671f\u7684\u306a\u767a\u9054\u652f\u63f4\u304c\u6cbb\u7642\u306e\u4e2d\u5fc3\u3068\u306a\u308a\u307e\u3059\u3002\u672c\u7a3f\u3067\u306f\u3001\u3053\u306e\u8907\u96d1\u306a\u75be\u60a3\u306e\u5206\u5b50\u30e1\u30ab\u30cb\u30ba\u30e0\u304b\u3089\u81e8\u5e8a\u73fe\u5834\u3067\u306e\u5bfe\u5fdc\u307e\u3067\u3092\u7db2\u7f85\u7684\u306b\u89e3\u8aac\u3057\u307e\u3059\u3002<\/p>\n\n\n<!--nipt_mono-->\r\n<div 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>FGFR2\u53d7\u5bb9\u4f53\u306e\u5f79\u5272<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-3\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/antley-bixler-syndrome-fgfr2-variant\/#%E6%A9%9F%E8%83%BD%E7%8D%B2%E5%BE%97%E5%A4%89%E7%95%B0%EF%BC%88Gain-of-function%EF%BC%89%E3%81%AE%E7%97%85%E6%85%8B\" >\u6a5f\u80fd\u7372\u5f97\u5909\u7570\uff08Gain-of-function\uff09\u306e\u75c5\u614b<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-4\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/antley-bixler-syndrome-fgfr2-variant\/#%E9%81%BA%E4%BC%9D%E5%BD%A2%E5%BC%8F\" >\u907a\u4f1d\u5f62\u5f0f<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-5\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/antley-bixler-syndrome-fgfr2-variant\/#2_%E8%87%A8%E5%BA%8A%E7%9A%84%E7%89%B9%E5%BE%B4%E3%81%A8%E4%B8%89%E5%BE%B4%EF%BC%9A%E3%82%B9%E3%83%86%E3%83%AD%E3%82%A4%E3%83%89%E4%BB%A3%E8%AC%9D%E7%95%B0%E5%B8%B8%E3%82%92%E4%BC%B4%E3%82%8F%E3%81%AA%E3%81%84%E5%A0%B4%E5%90%88%E3%81%AE%E6%89%80%E8%A6%8B\" >2. \u81e8\u5e8a\u7684\u7279\u5fb4\u3068\u4e09\u5fb4\uff1a\u30b9\u30c6\u30ed\u30a4\u30c9\u4ee3\u8b1d\u7570\u5e38\u3092\u4f34\u308f\u306a\u3044\u5834\u5408\u306e\u6240\u898b<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-6\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/antley-bixler-syndrome-fgfr2-variant\/#%E2%91%A0_%E9%A0%AD%E8%93%8B%E9%A1%94%E9%9D%A2%E3%81%AE%E7%89%B9%E5%BE%B4%EF%BC%88Craniofacial_features%EF%BC%89\" >\u2460 \u982d\u84cb\u9854\u9762\u306e\u7279\u5fb4\uff08Craniofacial features\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-7\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/antley-bixler-syndrome-fgfr2-variant\/#%E2%91%A1_%E5%9B%9B%E8%82%A2%E3%81%AE%E9%AA%A8%E6%A0%BC%E7%95%B0%E5%B8%B8%EF%BC%88Skeletal_anomalies%EF%BC%89\" >\u2461 \u56db\u80a2\u306e\u9aa8\u683c\u7570\u5e38\uff08Skeletal anomalies\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-8\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/antley-bixler-syndrome-fgfr2-variant\/#%E2%91%A2_%E5%86%85%E5%88%86%E6%B3%8C%E5%AD%A6%E7%9A%84%E3%83%BB%E6%80%A7%E5%99%A8%E3%81%AE%E6%AD%A3%E5%B8%B8%E6%80%A7%EF%BC%88%E3%81%93%E3%81%93%E3%81%8C%E9%91%91%E5%88%A5%E3%81%AE%E9%87%8D%E8%A6%81%E3%83%9D%E3%82%A4%E3%83%B3%E3%83%88%EF%BC%89\" >\u2462 \u5185\u5206\u6ccc\u5b66\u7684\u30fb\u6027\u5668\u306e\u6b63\u5e38\u6027\uff08\u3053\u3053\u304c\u9451\u5225\u306e\u91cd\u8981\u30dd\u30a4\u30f3\u30c8\uff09<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-9\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/antley-bixler-syndrome-fgfr2-variant\/#3_%E8%A8%BA%E6%96%AD%E3%81%A8%E9%91%91%E5%88%A5%EF%BC%9APOR%E6%AC%A0%E6%90%8D%E7%97%87%E3%81%A8%E3%81%AE%E6%B1%BA%E5%AE%9A%E7%9A%84%E3%81%AA%E9%81%95%E3%81%84\" >3. \u8a3a\u65ad\u3068\u9451\u5225\uff1aPOR\u6b20\u640d\u75c7\u3068\u306e\u6c7a\u5b9a\u7684\u306a\u9055\u3044<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-10\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/antley-bixler-syndrome-fgfr2-variant\/#%E3%82%B9%E3%83%86%E3%83%AD%E3%82%A4%E3%83%89%E4%BB%A3%E8%AC%9D%E7%95%B0%E5%B8%B8%E3%82%92%E4%BC%B4%E3%81%86%E3%82%BF%E3%82%A4%E3%83%97%EF%BC%88POR%E6%AC%A0%E6%90%8D%E7%97%87%EF%BC%89%E3%81%A8%E3%81%AE%E6%AF%94%E8%BC%83\" >\u30b9\u30c6\u30ed\u30a4\u30c9\u4ee3\u8b1d\u7570\u5e38\u3092\u4f34\u3046\u30bf\u30a4\u30d7\uff08POR\u6b20\u640d\u75c7\uff09\u3068\u306e\u6bd4\u8f03<\/a><\/li><li class='ez-toc-page-1 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>\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\u3068\u767a\u9054\u652f\u63f4<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-16\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/antley-bixler-syndrome-fgfr2-variant\/#5_%E4%BA%88%E5%BE%8C%E3%81%A8%E5%AE%B6%E6%97%8F%E3%81%B8%E3%81%AE%E3%82%B5%E3%83%9D%E3%83%BC%E3%83%88\" >5. \u4e88\u5f8c\u3068\u5bb6\u65cf\u3078\u306e\u30b5\u30dd\u30fc\u30c8<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-17\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/antley-bixler-syndrome-fgfr2-variant\/#%E9%95%B7%E6%9C%9F%E7%9A%84%E3%81%AA%E5%B1%95%E6%9C%9B\" >\u9577\u671f\u7684\u306a\u5c55\u671b<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-18\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/antley-bixler-syndrome-fgfr2-variant\/#%E3%83%81%E3%83%BC%E3%83%A0%E5%8C%BB%E7%99%82%E3%81%AE%E9%87%8D%E8%A6%81%E6%80%A7\" >\u30c1\u30fc\u30e0\u533b\u7642\u306e\u91cd\u8981\u6027<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-19\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/antley-bixler-syndrome-fgfr2-variant\/#%E7%B5%90%E8%AB%96\" >\u7d50\u8ad6<\/a><\/li><\/ul><\/nav><\/div>\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_%E9%81%BA%E4%BC%9D%E7%9A%84%E5%8E%9F%E5%9B%A0%E3%81%A8%E5%88%86%E5%AD%90%E3%83%A1%E3%82%AB%E3%83%8B%E3%82%BA%E3%83%A0%EF%BC%9AFGFR2%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%AE%E6%A9%9F%E8%83%BD%E7%8D%B2%E5%BE%97%E5%A4%89%E7%95%B0\"><\/span><strong>1. \u907a\u4f1d\u7684\u539f\u56e0\u3068\u5206\u5b50\u30e1\u30ab\u30cb\u30ba\u30e0\uff1aFGFR2\u907a\u4f1d\u5b50\u306e\u6a5f\u80fd\u7372\u5f97\u5909\u7570<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u30b9\u30c6\u30ed\u30a4\u30c9\u4ee3\u8b1d\u7570\u5e38\u3092\u4f34\u308f\u306a\u3044ABS\u306e\u75c7\u4f8b\u306b\u304a\u3044\u3066\u3001\u305d\u306e\u591a\u304f\u306f<strong>FGFR2\uff08\u7dda\u7dad\u82bd\u7d30\u80de\u5897\u6b96\u56e0\u5b50\u53d7\u5bb9\u4f532\uff09\u907a\u4f1d\u5b50<\/strong>\u306e\u5909\u7570\u304c\u539f\u56e0\u3067\u3042\u308b\u3053\u3068\u304c\u7279\u5b9a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"FGFR2%E5%8F%97%E5%AE%B9%E4%BD%93%E3%81%AE%E5%BD%B9%E5%89%B2\"><\/span><strong>FGFR2\u53d7\u5bb9\u4f53\u306e\u5f79\u5272<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>FGFR2\u306f\u3001\u7d30\u80de\u8868\u9762\u306b\u5b58\u5728\u3059\u308b\u53d7\u5bb9\u4f53\u3067\u3001\u9aa8\u306e\u5f62\u6210\u3084\u5206\u5316\u3001\u8840\u7ba1\u65b0\u751f\u306a\u3069\u3092\u5236\u5fa1\u3059\u308b\u30b7\u30b0\u30ca\u30eb\u4f1d\u9054\u3092\u62c5\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%A9%9F%E8%83%BD%E7%8D%B2%E5%BE%97%E5%A4%89%E7%95%B0%EF%BC%88Gain-of-function%EF%BC%89%E3%81%AE%E7%97%85%E6%85%8B\"><\/span><strong>\u6a5f\u80fd\u7372\u5f97\u5909\u7570\uff08Gain-of-function\uff09\u306e\u75c5\u614b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>ABS\u3092\u5f15\u304d\u8d77\u3053\u3059\u5909\u7570\u306f\u3001\u53d7\u5bb9\u4f53\u304c\u30ea\u30ac\u30f3\u30c9\uff08\u5897\u6b96\u56e0\u5b50\uff09\u306a\u3057\u3067\u3082\u5e38\u306b\u300c\u30aa\u30f3\u300d\u306e\u72b6\u614b\u306b\u306a\u3063\u3066\u3057\u307e\u3046\u3001\u3042\u308b\u3044\u306f\u30ea\u30ac\u30f3\u30c9\u306b\u5bfe\u3057\u3066\u904e\u654f\u306b\u53cd\u5fdc\u3057\u3066\u3057\u307e\u3046\u300c\u6a5f\u80fd\u7372\u5f97\u5909\u7570\u300d\u3067\u3059\u3002<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li><strong>\u982d\u84cb\u9aa8\u3078\u306e\u5f71\u97ff:<\/strong> \u982d\u84cb\u9aa8\u306e\u7d99\u304e\u76ee\uff08\u7e2b\u5408\u7dda\uff09\u306b\u3042\u308b\u524d\u99c6\u7d30\u80de\u304c\u3001\u672c\u6765\u306e\u6642\u671f\u3088\u308a\u3082\u65e9\u304f\u9aa8\u7d30\u80de\u3078\u3068\u5206\u5316\u30fb\u5897\u6b96\u3057\u307e\u3059\u3002\u3053\u308c\u304c\u300c\u982d\u84cb\u9aa8\u65e9\u671f\u7652\u5408\u75c7\u300d\u306e\u6b63\u4f53\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u56db\u80a2\u3078\u306e\u5f71\u97ff:<\/strong> \u8098\u95a2\u7bc0\uff08\u6a48\u5c3a\u9aa8\uff09\u306a\u3069\u306e\u8edf\u9aa8\u5f62\u6210\u30d7\u30ed\u30bb\u30b9\u306b\u304a\u3044\u3066\u7570\u5e38\u306a\u9aa8\u5316\u304c\u9032\u307f\u3001\u95a2\u7bc0\u306e\u7652\u5408\u3092\u62db\u304d\u307e\u3059\u3002<\/li>\n<\/ol>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%81%BA%E4%BC%9D%E5%BD%A2%E5%BC%8F\"><\/span><strong>\u907a\u4f1d\u5f62\u5f0f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u591a\u304f\u306f<strong>\u5e38\u67d3\u8272\u4f53\u512a\u6027\u907a\u4f1d<\/strong>\u306e\u5f62\u5f0f\u3092\u3068\u308a\u307e\u3059\u304c\u3001\u307b\u3068\u3093\u3069\u306e\u75c7\u4f8b\u306f\u5bb6\u65cf\u6b74\u306e\u306a\u3044\u7a81\u7136\u5909\u7570\uff08de novo\u5909\u7570\uff09\u3068\u3057\u3066\u767a\u751f\u3057\u307e\u3059\u3002\u3053\u308c\u306f\u3001\u30a2\u30da\u30fc\u30eb\u75c7\u5019\u7fa4\uff08Apert syndrome\uff09\u3084\u30af\u30eb\u30fc\u30be\u30f3\u75c7\u5019\u7fa4\uff08Crouzon syndrome\uff09\u3068\u3044\u3063\u305f\u4ed6\u306e\u982d\u84cb\u9aa8\u65e9\u671f\u7652\u5408\u75c7\u5019\u7fa4\u3068\u5206\u5b50\u30e1\u30ab\u30cb\u30ba\u30e0\u3092\u5171\u6709\u3057\u3066\u3044\u308b\u3053\u3068\u3092\u793a\u5506\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_%E8%87%A8%E5%BA%8A%E7%9A%84%E7%89%B9%E5%BE%B4%E3%81%A8%E4%B8%89%E5%BE%B4%EF%BC%9A%E3%82%B9%E3%83%86%E3%83%AD%E3%82%A4%E3%83%89%E4%BB%A3%E8%AC%9D%E7%95%B0%E5%B8%B8%E3%82%92%E4%BC%B4%E3%82%8F%E3%81%AA%E3%81%84%E5%A0%B4%E5%90%88%E3%81%AE%E6%89%80%E8%A6%8B\"><\/span><strong>2. \u81e8\u5e8a\u7684\u7279\u5fb4\u3068\u4e09\u5fb4\uff1a\u30b9\u30c6\u30ed\u30a4\u30c9\u4ee3\u8b1d\u7570\u5e38\u3092\u4f34\u308f\u306a\u3044\u5834\u5408\u306e\u6240\u898b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u672c\u75be\u60a3\u306e\u8a3a\u65ad\u306b\u304a\u3044\u3066\u6700\u3082\u91cd\u8981\u306a\u306e\u306f\u3001\u9aa8\u683c\u7570\u5e38\u306e\u30d1\u30bf\u30fc\u30f3\u3068\u3001\u5185\u5206\u6ccc\u5b66\u7684\u306a\u6b63\u5e38\u6027\u306e\u78ba\u8a8d\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A0_%E9%A0%AD%E8%93%8B%E9%A1%94%E9%9D%A2%E3%81%AE%E7%89%B9%E5%BE%B4%EF%BC%88Craniofacial_features%EF%BC%89\"><\/span><strong>\u2460 \u982d\u84cb\u9854\u9762\u306e\u7279\u5fb4\uff08Craniofacial features\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u982d\u84cb\u9aa8\u65e9\u671f\u7652\u5408:<\/strong> \u7279\u306b\u51a0\u72b6\u7e2b\u5408\u3084\u30e9\u30e0\u30c0\u7e2b\u5408\u306e\u65e9\u671f\u9589\u9396\u306b\u3088\u308b\u77ed\u982d\u84cb\u3084\u5854\u72b6\u982d\u84cb\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u4e2d\u9854\u9762\u4f4e\u5f62\u6210:<\/strong> \u9854\u9762\u306e\u4e2d\u592e\u90e8\u304c\u5e73\u5766\u3067\u3001\u76f8\u5bfe\u7684\u306b\u984d\u304c\u7a81\u51fa\u3057\u3066\u898b\u3048\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7279\u5fb4\u7684\u306a\u9854\u8c8c:<\/strong> \u773c\u7403\u7a81\u51fa\u3001\u4f4e\u4f4d\u4ed8\u7740\u8033\u3001\u68a8\u72b6\u53e3\u72ed\u7a84\uff08\u9f3b\u306e\u5965\u306e\u72ed\u7a84\uff09\u306a\u3069\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A1_%E5%9B%9B%E8%82%A2%E3%81%AE%E9%AA%A8%E6%A0%BC%E7%95%B0%E5%B8%B8%EF%BC%88Skeletal_anomalies%EF%BC%89\"><\/span><strong>\u2461 \u56db\u80a2\u306e\u9aa8\u683c\u7570\u5e38\uff08Skeletal anomalies\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6a48\u5c3a\u9aa8\u7652\u5408\u75c7:<\/strong> \u8098\u95a2\u7bc0\u306b\u304a\u3044\u3066\u3001\u6a48\u9aa8\u3068\u5c3a\u9aa8\u304c\u7652\u5408\u3057\u3001\u8155\u306e\u56de\u5185\u30fb\u56de\u5916\u3084\u5c48\u66f2\u304c\u5236\u9650\u3055\u308c\u307e\u3059\u3002\u3053\u308c\u304cABS\u3092\u4ed6\u306e\u75c7\u5019\u7fa4\u304b\u3089\u533a\u5225\u3059\u308b\u975e\u5e38\u306b\u91cd\u8981\u306a\u6307\u6a19\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5927\u817f\u9aa8\u306e\u5f2f\u66f2:<\/strong> \u65b0\u751f\u5150\u671f\u306b\u5927\u817f\u9aa8\u304c\u5f13\u306a\u308a\u306b\u66f2\u304c\u3063\u3066\u3044\u308b\u3053\u3068\u304c\u78ba\u8a8d\u3055\u308c\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u305d\u306e\u4ed6\u306e\u95a2\u7bc0\u62d8\u7e2e:<\/strong> \u6307\u306e\u95a2\u7bc0\u306a\u3069\u306e\u53ef\u52d5\u57df\u5236\u9650\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A2_%E5%86%85%E5%88%86%E6%B3%8C%E5%AD%A6%E7%9A%84%E3%83%BB%E6%80%A7%E5%99%A8%E3%81%AE%E6%AD%A3%E5%B8%B8%E6%80%A7%EF%BC%88%E3%81%93%E3%81%93%E3%81%8C%E9%91%91%E5%88%A5%E3%81%AE%E9%87%8D%E8%A6%81%E3%83%9D%E3%82%A4%E3%83%B3%E3%83%88%EF%BC%89\"><\/span><strong>\u2462 \u5185\u5206\u6ccc\u5b66\u7684\u30fb\u6027\u5668\u306e\u6b63\u5e38\u6027\uff08\u3053\u3053\u304c\u9451\u5225\u306e\u91cd\u8981\u30dd\u30a4\u30f3\u30c8\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u672c\u8a18\u4e8b\u304c\u5bfe\u8c61\u3068\u3059\u308b\u30bf\u30a4\u30d7\u3067\u306f\u3001\u4ee5\u4e0b\u306e\u7570\u5e38\u304c<strong>\u8a8d\u3081\u3089\u308c\u306a\u3044<\/strong>\u3053\u3068\u304c\u5b9a\u7fa9\u4e0a\u306e\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6027\u5668\u7570\u5e38\u306a\u3057:<\/strong> \u7537\u6027\u3067\u306e\u505c\u7559\u7cbe\u5de3\u3084\u5c3f\u9053\u4e0b\u88c2\u3001\u5973\u6027\u3067\u306e\u5916\u6027\u5668\u306e\u7537\u6027\u5316\u306a\u3069\u306f\u898b\u3089\u308c\u307e\u305b\u3093\u3002<\/li>\n\n\n\n<li><strong>\u30b9\u30c6\u30ed\u30a4\u30c9\u4ee3\u8b1d\u6b63\u5e38:<\/strong> \u526f\u814e\u76ae\u8cea\u30db\u30eb\u30e2\u30f3\u306e\u7523\u751f\u30d7\u30ed\u30bb\u30b9\u306f\u6b63\u5e38\u3067\u3042\u308a\u3001\u4f4e\u30b3\u30eb\u30c1\u30be\u30fc\u30eb\u8840\u75c7\u306b\u3088\u308b\u526f\u814e\u4e0d\u5168\u306e\u30ea\u30b9\u30af\u3082\u3042\u308a\u307e\u305b\u3093\u3002<\/li>\n<\/ul>\n\n\n<!--nipt_mono-->\r\n<div class=\"nipt-mono\">\r\n    <div class=\"nipt-mono-btn\">\r\n        <a href=\"\/nipt\/nipt-mono\/\">\r\n            <img decoding=\"async\" loading=\"lazy\" src=\"\/nipt\/wp-content\/uploads\/2026\/03\/NIPT-MONO.webp\" alt=\"NIPT-MONO\u3067\u8abf\u3079\u3089\u308c\u307e\u3059\">\r\n         <\/a>\r\n    <\/div>\r\n<\/div>\r\n\r\n<style>\r\n.nipt-mono {\r\n    text-align: center; \/* \u89aa\u8981\u7d20\u3067\u6a2a\u4e2d\u592e *\/\r\n}\r\n.nipt-mono a img {\r\n    display: inline-block; \/* \u753b\u50cf\u3092\u30a4\u30f3\u30e9\u30a4\u30f3\u30d6\u30ed\u30c3\u30af\u5316\u3057\u3066 text-align \u306b\u53cd\u6620 *\/\r\n    width: 333px;\r\n}\r\n<\/style>\r\n<!--\/nipt_mono-->\r\n\r\n\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_%E8%A8%BA%E6%96%AD%E3%81%A8%E9%91%91%E5%88%A5%EF%BC%9APOR%E6%AC%A0%E6%90%8D%E7%97%87%E3%81%A8%E3%81%AE%E6%B1%BA%E5%AE%9A%E7%9A%84%E3%81%AA%E9%81%95%E3%81%84\"><\/span><strong>3. \u8a3a\u65ad\u3068\u9451\u5225\uff1aPOR\u6b20\u640d\u75c7\u3068\u306e\u6c7a\u5b9a\u7684\u306a\u9055\u3044<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>ABS\u3068\u3044\u3046\u8a3a\u65ad\u540d\u304c\u3064\u3044\u305f\u969b\u3001\u6700\u521d\u306b\u884c\u3046\u3079\u304d\u306f\u300c\u5185\u5206\u6ccc\u7570\u5e38\u306e\u6709\u7121\u300d\u306e\u78ba\u8a8d\u3067\u3059\u3002\u3053\u308c\u306b\u3088\u308a\u3001\u4e88\u5f8c\u7ba1\u7406\u306e\u512a\u5148\u9806\u4f4d\u304c\u5927\u304d\u304f\u5909\u308f\u308b\u305f\u3081\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%82%B9%E3%83%86%E3%83%AD%E3%82%A4%E3%83%89%E4%BB%A3%E8%AC%9D%E7%95%B0%E5%B8%B8%E3%82%92%E4%BC%B4%E3%81%86%E3%82%BF%E3%82%A4%E3%83%97%EF%BC%88POR%E6%AC%A0%E6%90%8D%E7%97%87%EF%BC%89%E3%81%A8%E3%81%AE%E6%AF%94%E8%BC%83\"><\/span><strong>\u30b9\u30c6\u30ed\u30a4\u30c9\u4ee3\u8b1d\u7570\u5e38\u3092\u4f34\u3046\u30bf\u30a4\u30d7\uff08POR\u6b20\u640d\u75c7\uff09\u3068\u306e\u6bd4\u8f03<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<figure class=\"wp-block-table\"><table class=\"has-fixed-layout\"><tbody><tr><td><strong>\u81e8\u5e8a\u6240\u898b<\/strong><\/td><td><strong>FGFR2\u5909\u7570\u578b\uff08\u672c\u75c7\uff09<\/strong><\/td><td><strong>POR\u6b20\u640d\u75c7\uff08\u30b9\u30c6\u30ed\u30a4\u30c9\u7570\u5e38\u3042\u308a\uff09<\/strong><\/td><\/tr><tr><td><strong>\u907a\u4f1d\u5b50<\/strong><\/td><td>FGFR2<\/td><td>POR<\/td><\/tr><tr><td><strong>\u6027\u5668\u306e\u7570\u5e38<\/strong><\/td><td>\u306a\u3057<\/td><td>\u3042\u308a\uff08\u4e21\u6027\u5177\u6709\u7684\u6240\u898b\u306a\u3069\uff09<\/td><\/tr><tr><td><strong>\u30b9\u30c6\u30ed\u30a4\u30c9\u5408\u6210<\/strong><\/td><td>\u6b63\u5e38<\/td><td>\u969c\u5bb3\u3042\u308a\uff08\u526f\u814e\u4e0d\u5168\u306e\u30ea\u30b9\u30af\uff09<\/td><\/tr><tr><td><strong>\u56db\u80a2\u306e\u9aa8\u683c\u7570\u5e38<\/strong><\/td><td>\u9855\u8457<\/td><td>\u9855\u8457<\/td><\/tr><tr><td><strong>\u4e88\u5f8c\u7ba1\u7406<\/strong><\/td><td>\u5916\u79d1\u7684\u30fb\u767a\u9054\u652f\u63f4\u304c\u4e3b<\/td><td>\u30db\u30eb\u30e2\u30f3\u88dc\u5145 \uff0b \u5916\u79d1\u7684\u652f\u63f4<\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%A8%BA%E6%96%AD%E7%A2%BA%E5%AE%9A%E3%81%AE%E3%81%9F%E3%82%81%E3%81%AE%E6%A4%9C%E6%9F%BB\"><\/span><strong>\u8a3a\u65ad\u78ba\u5b9a\u306e\u305f\u3081\u306e\u691c\u67fb<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ol class=\"wp-block-list\">\n<li><strong>\u8840\u6db2\u30fb\u5c3f\u691c\u67fb:<\/strong> \u30b9\u30c6\u30ed\u30a4\u30c9\u30d7\u30ed\u30d5\u30a3\u30fc\u30eb\u306e\u89e3\u6790\u3092\u884c\u3044\u3001\u4ee3\u8b1d\u7570\u5e38\u304c\u306a\u3044\u3053\u3068\u3092\u8a3c\u660e\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u753b\u50cf\u8a3a\u65ad\uff08CT\/MRI\uff09:<\/strong> \u982d\u84cb\u7e2b\u5408\u306e\u72b6\u614b\u3068\u3001\u8098\u95a2\u7bc0\u306e\u7652\u5408\u7bc4\u56f2\u3092\u8a73\u7d30\u306b\u8a55\u4fa1\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u907a\u4f1d\u5b50\u691c\u67fb:<\/strong> FGFR2\u907a\u4f1d\u5b50\u306e\u30bf\u30fc\u30b2\u30c3\u30c8\u30b7\u30fc\u30b1\u30f3\u30b9\u3001\u307e\u305f\u306f\u5168\u30a8\u30ad\u30bd\u30fc\u30e0\u89e3\u6790\u306b\u3088\u308a\u3001\u5909\u7570\u7b87\u6240\u3092\u7279\u5b9a\u3057\u307e\u3059\u3002<\/li>\n<\/ol>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"427\" src=\"\/nipt\/wp-content\/uploads\/2026\/01\/33945516_s.webp\" alt=\"\u533b\u8005\" class=\"wp-image-121516\"\/><\/figure><\/div>\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"4_%E6%B2%BB%E7%99%82%E3%81%A8%E3%83%9E%E3%83%8D%E3%82%B8%E3%83%A1%E3%83%B3%E3%83%88%EF%BC%9A%E9%9B%86%E5%AD%A6%E7%9A%84%E3%82%A2%E3%83%97%E3%83%AD%E3%83%BC%E3%83%81%E3%81%AE%E5%BF%85%E8%A6%81%E6%80%A7\"><\/span><strong>4. \u6cbb\u7642\u3068\u30de\u30cd\u30b8\u30e1\u30f3\u30c8\uff1a\u96c6\u5b66\u7684\u30a2\u30d7\u30ed\u30fc\u30c1\u306e\u5fc5\u8981\u6027<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u672c\u75c7\u306e\u6cbb\u7642\u306f\u3001\u5f62\u614b\u306e\u6539\u5584\u3060\u3051\u3067\u306a\u304f\u3001\u8133\u5727\u7ba1\u7406\u3084\u547c\u5438\u30fb\u6442\u98df\u3068\u3044\u3063\u305f\u751f\u547d\u7dad\u6301\u6a5f\u80fd\u306e\u78ba\u4fdd\u3092\u6700\u512a\u5148\u306b\u884c\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%84%B3%E7%A5%9E%E7%B5%8C%E5%A4%96%E7%A7%91%E3%81%8A%E3%82%88%E3%81%B3%E5%BD%A2%E6%88%90%E5%A4%96%E7%A7%91%E7%9A%84%E4%BB%8B%E5%85%A5\"><\/span><strong>\u8133\u795e\u7d4c\u5916\u79d1\u304a\u3088\u3073\u5f62\u6210\u5916\u79d1\u7684\u4ecb\u5165<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u982d\u84cb\u5f62\u6210\u8853:<\/strong> \u8133\u306e\u6210\u9577\u3092\u59a8\u3052\u306a\u3044\u3088\u3046\u3001\u7652\u5408\u3057\u305f\u7e2b\u5408\u7dda\u3092\u89e3\u9664\u3057\u3001\u982d\u84cb\u5bb9\u7a4d\u3092\u62e1\u5927\u3057\u307e\u3059\u3002\u901a\u5e38\u3001\u4e73\u5150\u671f\u306e\u65e9\u671f\u306b\u884c\u308f\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u4e2d\u9854\u9762\u79fb\u52d5\u8853:<\/strong> \u547c\u5438\u969c\u5bb3\uff08\u7761\u7720\u6642\u7121\u547c\u5438\uff09\u3084\u773c\u7403\u4fdd\u8b77\u306e\u305f\u3081\u306b\u3001\u9854\u9762\u306e\u9aa8\u3092\u524d\u65b9\u306b\u79fb\u52d5\u3055\u305b\u308b\u624b\u8853\uff08Le Fort III\u306a\u3069\uff09\u304c\u691c\u8a0e\u3055\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%95%B4%E5%BD%A2%E5%A4%96%E7%A7%91%E7%9A%84%E4%BB%8B%E5%85%A5\"><\/span><strong>\u6574\u5f62\u5916\u79d1\u7684\u4ecb\u5165<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6a48\u5c3a\u9aa8\u7652\u5408\u3078\u306e\u5bfe\u5fdc:<\/strong> \u65e5\u5e38\u751f\u6d3b\u52d5\u4f5c\uff08ADL\uff09\u3092\u8003\u616e\u3057\u3001\u53ef\u80fd\u306a\u9650\u308a\u8155\u306e\u6a5f\u80fd\u3092\u6700\u9069\u5316\u3059\u308b\u30dd\u30b8\u30b7\u30e7\u30f3\u3078\u306e\u56fa\u5b9a\u3084\u3001\u6a5f\u80fd\u56de\u5fa9\u8a13\u7df4\u3092\u884c\u3044\u307e\u3059\u3002\u305f\u3060\u3057\u3001\u5358\u7d14\u306a\u5206\u96e2\u8853\u3067\u306f\u518d\u7652\u5408\u306e\u30ea\u30b9\u30af\u304c\u9ad8\u3044\u305f\u3081\u3001\u614e\u91cd\u306a\u9069\u5fdc\u5224\u65ad\u304c\u306a\u3055\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%83%AA%E3%83%8F%E3%83%93%E3%83%AA%E3%83%86%E3%83%BC%E3%82%B7%E3%83%A7%E3%83%B3%E3%81%A8%E7%99%BA%E9%81%94%E6%94%AF%E6%8F%B4\"><\/span><strong>\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\u3068\u767a\u9054\u652f\u63f4<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7406\u5b66\u7642\u6cd5\u30fb\u4f5c\u696d\u7642\u6cd5:<\/strong> \u95a2\u7bc0\u306e\u53ef\u52d5\u57df\u7dad\u6301\u3068\u3001\u88dc\u52a9\u5177\u3092\u7528\u3044\u305fADL\u306e\u5411\u4e0a\u3092\u56f3\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8a00\u8a9e\u8074\u899a\u7642\u6cd5:<\/strong> \u4e2d\u9854\u9762\u4f4e\u5f62\u6210\u306b\u4f34\u3046\u69cb\u97f3\u969c\u5bb3\u3084\u6442\u98df\u56a5\u4e0b\u969c\u5bb3\u3078\u306e\u30b5\u30dd\u30fc\u30c8\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"5_%E4%BA%88%E5%BE%8C%E3%81%A8%E5%AE%B6%E6%97%8F%E3%81%B8%E3%81%AE%E3%82%B5%E3%83%9D%E3%83%BC%E3%83%88\"><\/span><strong>5. \u4e88\u5f8c\u3068\u5bb6\u65cf\u3078\u306e\u30b5\u30dd\u30fc\u30c8<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u6027\u5668\u7570\u5e38\u3084\u30b9\u30c6\u30ed\u30a4\u30c9\u4ee3\u8b1d\u7570\u5e38\u3092\u4f34\u308f\u306a\u3044ABS\u60a3\u8005\u306e\u4e88\u5f8c\u306f\u3001\u982d\u84cb\u9aa8\u65e9\u671f\u7652\u5408\u306b\u4f34\u3046\u5408\u4f75\u75c7\uff08\u8133\u5727\u4ea2\u9032\u3001\u8996\u529b\u969c\u5bb3\u3001\u547c\u5438\u5668\u969c\u5bb3\uff09\u3092\u3044\u304b\u306b\u65e9\u671f\u306b\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u3067\u304d\u308b\u304b\u306b\u4f9d\u5b58\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%95%B7%E6%9C%9F%E7%9A%84%E3%81%AA%E5%B1%95%E6%9C%9B\"><\/span><strong>\u9577\u671f\u7684\u306a\u5c55\u671b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5185\u5206\u6ccc\u6a5f\u80fd\u304c\u6b63\u5e38\u3067\u3042\u308b\u305f\u3081\u3001POR\u6b20\u640d\u75c7\u306b\u898b\u3089\u308c\u308b\u3088\u3046\u306a\u526f\u814e\u4e0d\u5168\u306b\u3088\u308b\u6025\u6027\u5897\u60aa\u306e\u30ea\u30b9\u30af\u306f\u4f4e\u3044\u3068\u3044\u3046\u30e1\u30ea\u30c3\u30c8\u304c\u3042\u308a\u307e\u3059\u3002\u4e00\u65b9\u3067\u3001\u8907\u6570\u56de\u306b\u308f\u305f\u308b\u5916\u79d1\u7684\u624b\u8853\u304c\u5fc5\u8981\u3068\u306a\u308b\u305f\u3081\u3001\u60a3\u8005\u3068\u5bb6\u65cf\u306e\u5fc3\u7406\u7684\u8ca0\u62c5\u306b\u5bfe\u3059\u308b\u30e1\u30f3\u30bf\u30eb\u30b1\u30a2\u304c\u4e0d\u53ef\u6b20\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%83%81%E3%83%BC%E3%83%A0%E5%8C%BB%E7%99%82%E3%81%AE%E9%87%8D%E8%A6%81%E6%80%A7\"><\/span><strong>\u30c1\u30fc\u30e0\u533b\u7642\u306e\u91cd\u8981\u6027<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5c0f\u5150\u79d1\u3001\u8133\u795e\u7d4c\u5916\u79d1\u3001\u5f62\u6210\u5916\u79d1\u3001\u6574\u5f62\u5916\u79d1\u3001\u773c\u79d1\u3001\u8033\u9f3b\u54bd\u5589\u79d1\u3001\u305d\u3057\u3066\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30e9\u30fc\u3002\u3053\u308c\u3089\u306e\u5c02\u9580\u5bb6\u304c\u5bc6\u306b\u9023\u643a\u3057\u3001\u6210\u9577\u306e\u30b9\u30c6\u30fc\u30b8\u306b\u5408\u308f\u305b\u305f\u300c\u30c8\u30fc\u30bf\u30eb\u30b1\u30a2\u30d7\u30e9\u30f3\u300d\u3092\u7b56\u5b9a\u3059\u308b\u3053\u3068\u304c\u3001\u672c\u75c7\u7ba1\u7406\u306e\u30b4\u30fc\u30eb\u3067\u3059\u3002<\/p>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%B5%90%E8%AB%96\"><\/span><strong>\u7d50\u8ad6<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis\u306f\u3001FGFR2\u3068\u3044\u3046\u9aa8\u5f62\u6210\u306e\u30de\u30b9\u30bf\u30fc\u30ad\u30fc\u306e\u7570\u5e38\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u75be\u60a3\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u300c\u30b9\u30c6\u30ed\u30a4\u30c9\u7570\u5e38\u304c\u306a\u3044\u300d\u3068\u3044\u3046\u4e8b\u5b9f\u306f\u3001\u5168\u8eab\u7ba1\u7406\u306b\u304a\u3051\u308b\u4e00\u3064\u306e\u5b89\u5fc3\u6750\u6599\u3067\u306f\u3042\u308a\u307e\u3059\u304c\u3001\u9aa8\u683c\u306e\u5909\u5f62\u304c\u91cd\u5ea6\u3067\u3042\u308b\u3053\u3068\u306b\u5909\u308f\u308a\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u3057\u304b\u3057\u3001\u8fd1\u5e74\u306e\u624b\u8853\u6280\u8853\u306e\u5411\u4e0a\u3068\u3001\u65e9\u671f\u304b\u3089\u306e\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\u4ecb\u5165\u306b\u3088\u308a\u3001\u5b50\u4f9b\u305f\u3061\u306e\u6301\u3064\u53ef\u80fd\u6027\u3092\u6700\u5927\u9650\u306b\u5f15\u304d\u51fa\u3059\u9053\u304c\u958b\u304b\u308c\u3066\u3044\u307e\u3059\u3002\u6b63\u78ba\u306a\u907a\u4f1d\u5b50\u8a3a\u65ad\u306b\u57fa\u3065\u304d\u3001\u305d\u308c\u305e\u308c\u306e\u75c7\u72b6\u306b\u6700\u9069\u5316\u3055\u308c\u305f\u533b\u7642\u30c1\u30fc\u30e0\u3092\u7d50\u6210\u3059\u308b\u3053\u3068\u304c\u3001\u6700\u3082\u91cd\u8981\u306a\u7b2c\u4e00\u6b69\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n<!--nipt_mono-->\r\n<div 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href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/antley-bixler-syndrome-fgfr2-variant\/\">\u7d9a\u304d\u3092\u8aad\u3080<\/a>","protected":false},"author":122,"featured_media":119919,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[1392],"tags":[],"class_list":["post-122491","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-1392"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/122491","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/users\/122"}],"replies":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/comments?post=122491"}],"version-history":[{"count":2,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/122491\/revisions"}],"predecessor-version":[{"id":126190,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/122491\/revisions\/126190"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media\/119919"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=122491"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=122491"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=122491"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}