{"id":122545,"date":"2026-01-14T10:50:23","date_gmt":"2026-01-14T01:50:23","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=122545"},"modified":"2026-03-27T16:26:42","modified_gmt":"2026-03-27T07:26:42","slug":"bent-bone-dysplasia-syndrome-fgfr2-symptoms-diagnosis","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/bent-bone-dysplasia-syndrome-fgfr2-symptoms-diagnosis\/","title":{"rendered":"Bent Bone Dysplasia Syndrome"},"content":{"rendered":"\n<p>Bent Bone Dysplasia\u75c7\u5019\u7fa4\uff08BBDS\uff09\u306f\u3001\u5168\u8eab\u306e\u9577\u7ba1\u9aa8\u3001\u7279\u306b\u5927\u817f\u9aa8\u3084\u811b\u9aa8\u304c\u5f13\u72b6\u306b\u5f37\u304f\u5f2f\u66f2\uff08\u5c48\u66f2\uff09\u3057\u3066\u751f\u307e\u308c\u3066\u304f\u308b\u3001\u6975\u3081\u3066\u7a00\u306a\u5148\u5929\u6027\u9aa8\u7cfb\u7d71\u75be\u60a3\u3067\u3059\u3002\u305d\u306e\u81e8\u5e8a\u50cf\u306e\u91cd\u7be4\u3055\u304b\u3089\u3001\u591a\u304f\u306f\u5468\u7523\u671f\u3042\u308b\u3044\u306f\u65b0\u751f\u5150\u671f\u306b\u81f4\u6b7b\u7684\u7d4c\u904e\u3092\u305f\u3069\u308b\u300c\u81f4\u6b7b\u6027\u9aa8\u7570\u5f62\u6210\u75c7\u300d\u306e\u4e00\u3064\u306b\u6570\u3048\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u672c\u75c7\u5019\u7fa4\u306f\u3001\u30af\u30ed\u30fc\u30d0\u30fc\u8449\u982d\u84cb\u3084\u9854\u9762\u5f62\u6210\u4e0d\u5168\u3092\u4f34\u3046\u306a\u3069\u3001\u4ed6\u306eFGFR\u95a2\u9023\u75be\u60a3\u3068\u4e00\u90e8\u306e\u5fb4\u5019\u3092\u5171\u6709\u3057\u307e\u3059\u304c\u3001\u9aa8\u306e\u300c\u5c48\u66f2\u300d\u3068\u3044\u3046\u8868\u73fe\u578b\u306b\u304a\u3044\u3066\u7279\u7570\u306a\u4f4d\u7f6e\u3092\u5360\u3081\u3066\u3044\u307e\u3059\u3002\u672c\u7a3f\u3067\u306f\u3001BBDS\u306e\u907a\u4f1d\u5b66\u7684\u80cc\u666f\u304b\u3089\u6700\u65b0\u306e\u8a3a\u65ad\u57fa\u6e96\u3001\u75c5\u7406\u5b66\u7684\u6240\u898b\u307e\u3067\u3092\u5c02\u9580\u7684\u306b\u8a73\u8aac\u3057\u307e\u3059\u3002<\/p>\n\n\n<!--nipt_mono-->\r\n<div 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class=\"ez-toc-pull-right ez-toc-btn ez-toc-btn-xs ez-toc-btn-default ez-toc-toggle\" aria-label=\"Toggle Table of Content\"><span class=\"ez-toc-js-icon-con\"><span class=\"\"><span class=\"eztoc-hide\" style=\"display:none;\">Toggle<\/span><span class=\"ez-toc-icon-toggle-span\"><svg style=\"fill: #999;color:#999\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" class=\"list-377408\" width=\"20px\" height=\"20px\" viewBox=\"0 0 24 24\" fill=\"none\"><path d=\"M6 6H4v2h2V6zm14 0H8v2h12V6zM4 11h2v2H4v-2zm16 0H8v2h12v-2zM4 16h2v2H4v-2zm16 0H8v2h12v-2z\" fill=\"currentColor\"><\/path><\/svg><svg style=\"fill: #999;color:#999\" class=\"arrow-unsorted-368013\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" width=\"10px\" height=\"10px\" viewBox=\"0 0 24 24\" version=\"1.2\" baseProfile=\"tiny\"><path d=\"M18.2 9.3l-6.2-6.3-6.2 6.3c-.2.2-.3.4-.3.7s.1.5.3.7c.2.2.4.3.7.3h11c.3 0 .5-.1.7-.3.2-.2.3-.5.3-.7s-.1-.5-.3-.7zM5.8 14.7l6.2 6.3 6.2-6.3c.2-.2.3-.5.3-.7s-.1-.5-.3-.7c-.2-.2-.4-.3-.7-.3h-11c-.3 0-.5.1-.7.3-.2.2-.3.5-.3.7s.1.5.3.7z\"\/><\/svg><\/span><\/span><\/span><\/a><\/span><\/div>\n<nav><ul class='ez-toc-list ez-toc-list-level-1 ' ><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-1\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/bent-bone-dysplasia-syndrome-fgfr2-symptoms-diagnosis\/#1_%E5%88%86%E5%AD%90%E7%97%85%E6%85%8B%EF%BC%9AFGFR2%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%AE%E8%86%9C%E8%B2%AB%E9%80%9A%E3%83%89%E3%83%A1%E3%82%A4%E3%83%B3%E5%A4%89%E7%95%B0\" >1. \u5206\u5b50\u75c5\u614b\uff1aFGFR2\u907a\u4f1d\u5b50\u306e\u819c\u8cab\u901a\u30c9\u30e1\u30a4\u30f3\u5909\u7570<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-2\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/bent-bone-dysplasia-syndrome-fgfr2-symptoms-diagnosis\/#%E8%86%9C%E8%B2%AB%E9%80%9A%E3%83%89%E3%83%A1%E3%82%A4%E3%83%B3%E3%81%B8%E3%81%AE%E7%89%B9%E7%95%B0%E7%9A%84%E3%81%AA%E5%A4%89%E7%95%B0\" >\u819c\u8cab\u901a\u30c9\u30e1\u30a4\u30f3\u3078\u306e\u7279\u7570\u7684\u306a\u5909\u7570<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-3\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/bent-bone-dysplasia-syndrome-fgfr2-symptoms-diagnosis\/#2_%E8%87%A8%E5%BA%8A%E7%9A%84%E3%81%8A%E3%82%88%E3%81%B3%E6%94%BE%E5%B0%84%E7%B7%9A%E5%AD%A6%E7%9A%84%E7%89%B9%E5%BE%B4\" >2. \u81e8\u5e8a\u7684\u304a\u3088\u3073\u653e\u5c04\u7dda\u5b66\u7684\u7279\u5fb4<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-4\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/bent-bone-dysplasia-syndrome-fgfr2-symptoms-diagnosis\/#%E9%95%B7%E7%AE%A1%E9%AA%A8%E3%81%AE%E8%91%97%E3%81%97%E3%81%84%E5%BC%AF%E6%9B%B2%EF%BC%88Bent_Bones%EF%BC%89\" >\u9577\u7ba1\u9aa8\u306e\u8457\u3057\u3044\u5f2f\u66f2\uff08Bent Bones\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-5\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/bent-bone-dysplasia-syndrome-fgfr2-symptoms-diagnosis\/#%E9%A0%AD%E8%93%8B%E3%83%BB%E9%A1%94%E9%9D%A2%E3%81%AE%E7%95%B0%E5%B8%B8\" >\u982d\u84cb\u30fb\u9854\u9762\u306e\u7570\u5e38<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-6\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/bent-bone-dysplasia-syndrome-fgfr2-symptoms-diagnosis\/#%E3%81%9D%E3%81%AE%E4%BB%96%E3%81%AE%E9%AA%A8%E6%A0%BC%E6%89%80%E8%A6%8B\" >\u305d\u306e\u4ed6\u306e\u9aa8\u683c\u6240\u898b<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-7\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/bent-bone-dysplasia-syndrome-fgfr2-symptoms-diagnosis\/#3_%E8%A8%BA%E6%96%AD%E3%81%A8%E9%91%91%E5%88%A5%E8%A8%BA%E6%96%AD%EF%BC%9A%E9%A1%9E%E4%BC%BC%E7%96%BE%E6%82%A3%E3%81%A8%E3%81%AE%E7%9B%B8%E9%81%95%E7%82%B9\" >3. \u8a3a\u65ad\u3068\u9451\u5225\u8a3a\u65ad\uff1a\u985e\u4f3c\u75be\u60a3\u3068\u306e\u76f8\u9055\u70b9<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-8\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/bent-bone-dysplasia-syndrome-fgfr2-symptoms-diagnosis\/#%E9%91%91%E5%88%A5%E3%81%99%E3%81%B9%E3%81%8D%E4%B8%BB%E8%A6%81%E7%96%BE%E6%82%A3\" >\u9451\u5225\u3059\u3079\u304d\u4e3b\u8981\u75be\u60a3<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-9\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/bent-bone-dysplasia-syndrome-fgfr2-symptoms-diagnosis\/#%E7%A2%BA%E5%AE%9A%E8%A8%BA%E6%96%AD\" >\u78ba\u5b9a\u8a3a\u65ad<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-10\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/bent-bone-dysplasia-syndrome-fgfr2-symptoms-diagnosis\/#4_%E3%83%9E%E3%83%8D%E3%82%B8%E3%83%A1%E3%83%B3%E3%83%88%E3%81%A8%E4%BA%88%E5%BE%8C%E3%81%AE%E5%8E%B3%E3%81%97%E3%81%95\" >4. \u30de\u30cd\u30b8\u30e1\u30f3\u30c8\u3068\u4e88\u5f8c\u306e\u53b3\u3057\u3055<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-11\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/bent-bone-dysplasia-syndrome-fgfr2-symptoms-diagnosis\/#%E9%9B%86%E4%B8%AD%E6%B2%BB%E7%99%82%E3%81%A8%E5%AF%BE%E7%97%87%E7%99%82%E6%B3%95\" >\u96c6\u4e2d\u6cbb\u7642\u3068\u5bfe\u75c7\u7642\u6cd5<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-12\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/bent-bone-dysplasia-syndrome-fgfr2-symptoms-diagnosis\/#%E9%81%BA%E4%BC%9D%E3%82%AB%E3%82%A6%E3%83%B3%E3%82%BB%E3%83%AA%E3%83%B3%E3%82%B0\" >\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-13\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/bent-bone-dysplasia-syndrome-fgfr2-symptoms-diagnosis\/#5_%E6%9C%80%E6%96%B0%E3%81%AE%E7%A0%94%E7%A9%B6%E5%8B%95%E5%90%91%E3%81%A8%E5%B0%86%E6%9D%A5%E3%81%AE%E5%B1%95%E6%9C%9B\" >5. \u6700\u65b0\u306e\u7814\u7a76\u52d5\u5411\u3068\u5c06\u6765\u306e\u5c55\u671b<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-14\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/bent-bone-dysplasia-syndrome-fgfr2-symptoms-diagnosis\/#%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_%E5%88%86%E5%AD%90%E7%97%85%E6%85%8B%EF%BC%9AFGFR2%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%AE%E8%86%9C%E8%B2%AB%E9%80%9A%E3%83%89%E3%83%A1%E3%82%A4%E3%83%B3%E5%A4%89%E7%95%B0\"><\/span><strong>1. \u5206\u5b50\u75c5\u614b\uff1aFGFR2\u907a\u4f1d\u5b50\u306e\u819c\u8cab\u901a\u30c9\u30e1\u30a4\u30f3\u5909\u7570<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>Bent Bone Dysplasia\u75c7\u5019\u7fa4\u306f\u3001\u7b2c10\u67d3\u8272\u4f53\uff0810q26.13\uff09\u306b\u4f4d\u7f6e\u3059\u308b<strong>FGFR2\u907a\u4f1d\u5b50<\/strong>\u306e\u30d8\u30c6\u30ed\u63a5\u5408\u578b\u5909\u7570\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%86%9C%E8%B2%AB%E9%80%9A%E3%83%89%E3%83%A1%E3%82%A4%E3%83%B3%E3%81%B8%E3%81%AE%E7%89%B9%E7%95%B0%E7%9A%84%E3%81%AA%E5%A4%89%E7%95%B0\"><\/span><strong>\u819c\u8cab\u901a\u30c9\u30e1\u30a4\u30f3\u3078\u306e\u7279\u7570\u7684\u306a\u5909\u7570<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u540c\u3058FGFR2\u5909\u7570\u3067\u3082\u3001\u30a2\u30da\u30fc\u30eb\u75c7\u5019\u7fa4\u3084\u30af\u30eb\u30fc\u30be\u30f3\u75c7\u5019\u7fa4\u304c\u4e3b\u306b\u7d30\u80de\u5916\u30c9\u30e1\u30a4\u30f3\u306e\u5909\u7570\u3067\u3042\u308b\u306e\u306b\u5bfe\u3057\u3001BBDS\u306f\u819c\u8cab\u901a\u30c9\u30e1\u30a4\u30f3\uff08Transmembrane domain\uff09\u306b\u304a\u3051\u308b\u7279\u7570\u7684\u306a\u30a2\u30df\u30ce\u9178\u7f6e\u63db\uff08\u4f8b\uff1aMet391Arg\u3084Asn394Iis\uff09\u304c\u539f\u56e0\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u5909\u7570\u306f\u3001\u53d7\u5bb9\u4f53\u306e\u30ea\u30ac\u30f3\u30c9\u4f9d\u5b58\u6027\u3092\u6d88\u5931\u3055\u305b\u3001\u9aa8\u82bd\u7d30\u80de\u306e\u5206\u5316\u3084\u5897\u6b96\u306e\u30b7\u30b0\u30ca\u30eb\u3092\u6975\u7aef\u306b\u7570\u5e38\u6d3b\u6027\u5316\u3055\u305b\u307e\u3059\u3002\u305d\u306e\u7d50\u679c\u3001\u6b63\u5e38\u306a\u9aa8\u5316\u30d7\u30ed\u30bb\u30b9\u304c\u8457\u3057\u304f\u963b\u5bb3\u3055\u308c\u3001\u5f37\u5ea6\u306e\u4e0d\u8db3\u3057\u305f\u9aa8\u304c\u80ce\u5150\u671f\u306e\u7b4b\u53ce\u7e2e\u306a\u3069\u306e\u5727\u529b\u306b\u8010\u3048\u3089\u308c\u305a\u3001\u5f2f\u66f2\u3092\u751f\u3058\u308b\u3068\u8003\u3048\u3089\u308c\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%E3%81%8A%E3%82%88%E3%81%B3%E6%94%BE%E5%B0%84%E7%B7%9A%E5%AD%A6%E7%9A%84%E7%89%B9%E5%BE%B4\"><\/span><strong>2. \u81e8\u5e8a\u7684\u304a\u3088\u3073\u653e\u5c04\u7dda\u5b66\u7684\u7279\u5fb4<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>BBDS\u306e\u8a3a\u65ad\u306f\u3001\u51fa\u751f\u524d\u8d85\u97f3\u6ce2\u691c\u67fb\u3084\u51fa\u751f\u5f8c\u306e\u30ec\u30f3\u30c8\u30b2\u30f3\uff08\u5168\u8eab\u9aa8\u30ec\u30f3\u30c8\u30b2\u30f3\uff09\u6240\u898b\u304c\u6c7a\u5b9a\u7684\u306a\u5f79\u5272\u3092\u679c\u305f\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%95%B7%E7%AE%A1%E9%AA%A8%E3%81%AE%E8%91%97%E3%81%97%E3%81%84%E5%BC%AF%E6%9B%B2%EF%BC%88Bent_Bones%EF%BC%89\"><\/span><strong>\u9577\u7ba1\u9aa8\u306e\u8457\u3057\u3044\u5f2f\u66f2\uff08Bent Bones\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5927\u817f\u9aa8\u304a\u3088\u3073\u811b\u9aa8\u306e\u5f13\u72b6\u5909\u5f62\uff1a<\/strong> \u6700\u3082\u7279\u5fb4\u7684\u306a\u6240\u898b\u3067\u3059\u3002\u7279\u306b\u5927\u817f\u9aa8\u306e\u4e2d\u9694\u90e8\u3067\u306e\u5f37\u3044\u5f2f\u66f2\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u4f4e\u5f62\u6210\u30fb\u6b20\u640d\uff1a<\/strong> \u8153\u9aa8\uff08\u3059\u306d\u306e\u7d30\u3044\u9aa8\uff09\u306e\u6b20\u640d\u3084\u8457\u3057\u3044\u4f4e\u5f62\u6210\u3092\u4f34\u3046\u3053\u3068\u304c\u591a\u304f\u3001\u3053\u308c\u304c\u4e0b\u80a2\u306e\u5909\u5f62\u3092\u3088\u308a\u5f37\u8abf\u3055\u305b\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%A0%AD%E8%93%8B%E3%83%BB%E9%A1%94%E9%9D%A2%E3%81%AE%E7%95%B0%E5%B8%B8\"><\/span><strong>\u982d\u84cb\u30fb\u9854\u9762\u306e\u7570\u5e38<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u982d\u84cb\u7e2b\u5408\u65e9\u671f\u958b\u901a\u75c7\uff1a<\/strong> \u51a0\u72b6\u7e2b\u5408\u306a\u3069\u306e\u65e9\u671f\u9589\u9396\u306b\u3088\u308a\u3001\u30af\u30ed\u30fc\u30d0\u30fc\u8449\u982d\u84cb\uff08Cloverleaf skull\uff09\u3084\u77ed\u982d\u75c7\u3092\u5448\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u773c\u7403\u7a81\u51fa\u3068\u9854\u9762\u4f4e\u5f62\u6210\uff1a<\/strong> \u773c\u7aa9\u304c\u6d45\u3044\u305f\u3081\u773c\u7403\u304c\u7a81\u51fa\u3057\u3001\u9f3b\u6839\u90e8\u304c\u9665\u51f9\u3057\u305f\u7279\u6709\u306e\u9854\u8c8c\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%81%9D%E3%81%AE%E4%BB%96%E3%81%AE%E9%AA%A8%E6%A0%BC%E6%89%80%E8%A6%8B\"><\/span><strong>\u305d\u306e\u4ed6\u306e\u9aa8\u683c\u6240\u898b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u9396\u9aa8\u306e\u4f4e\u5f62\u6210\uff1a<\/strong> \u9396\u9aa8\u304c\u975e\u5e38\u306b\u77ed\u304f\u3001\u3042\u308b\u3044\u306f\u4e00\u90e8\u304c\u6b20\u640d\u3057\u3066\u3044\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6065\u9aa8\u306e\u9aa8\u5316\u9045\u5ef6\uff1a<\/strong> \u9aa8\u76e4\u30ec\u30f3\u30b2\u30f3\u306b\u304a\u3044\u3066\u3001\u6065\u9aa8\u306e\u9aa8\u5316\u304c\u8457\u3057\u304f\u9045\u308c\u3066\u3044\u308b\u306e\u304c\u78ba\u8a8d\u3055\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u591a\u6307\u75c7\uff08\u6642\u306b\u968f\u4f34\uff09\uff1a<\/strong> \u624b\u8db3\u306e\u6307\u306e\u6570\u306b\u7570\u5e38\u304c\u898b\u3089\u308c\u308b\u75c7\u4f8b\u3082\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\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<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%E8%A8%BA%E6%96%AD%EF%BC%9A%E9%A1%9E%E4%BC%BC%E7%96%BE%E6%82%A3%E3%81%A8%E3%81%AE%E7%9B%B8%E9%81%95%E7%82%B9\"><\/span><strong>3. \u8a3a\u65ad\u3068\u9451\u5225\u8a3a\u65ad\uff1a\u985e\u4f3c\u75be\u60a3\u3068\u306e\u76f8\u9055\u70b9<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>BBDS\u306f\u975e\u5e38\u306b\u7a00\u3067\u3042\u308b\u305f\u3081\u3001\u4ed6\u306e\u300c\u9aa8\u304c\u66f2\u304c\u308b\u300d\u75be\u60a3\u3068\u306e\u9451\u5225\u304c\u91cd\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%91%91%E5%88%A5%E3%81%99%E3%81%B9%E3%81%8D%E4%B8%BB%E8%A6%81%E7%96%BE%E6%82%A3\"><\/span><strong>\u9451\u5225\u3059\u3079\u304d\u4e3b\u8981\u75be\u60a3<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ol class=\"wp-block-list\">\n<li><strong>Campomelic Dysplasia\uff08\u30ab\u30e0\u30dd\u30e1\u30ea\u30c3\u30af\u7570\u5f62\u6210\u75c7\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li><em>\u539f\u56e0\uff1a<\/em> SOX9\u907a\u4f1d\u5b50\u5909\u7570\u3002<\/li>\n\n\n\n<li><em>\u9055\u3044\uff1a<\/em> BBDS\u3068\u540c\u69d8\u306b\u9577\u7ba1\u9aa8\u304c\u5f2f\u66f2\u3057\u307e\u3059\u304c\u3001\u30ab\u30e0\u30dd\u30e1\u30ea\u30c3\u30af\u3067\u306f\u6027\u5206\u5316\u7570\u5e38\uff08\u5916\u6027\u5668\u306e\u4e0d\u660e\u77ad\u5316\uff09\u3084\u80a9\u7532\u9aa8\u306e\u4f4e\u5f62\u6210\u304c\u9855\u8457\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Thanatophoric Dysplasia\uff08\u81f4\u6b7b\u6027\u9aa8\u7570\u5f62\u6210\u75c7\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li><em>\u539f\u56e0\uff1a<\/em> FGFR3\u907a\u4f1d\u5b50\u5909\u7570\u3002<\/li>\n\n\n\n<li><em>\u9055\u3044\uff1a<\/em> 1\u578b\u3067\u306f\u5927\u817f\u9aa8\u304c\u53d7\u8a71\u5668\u72b6\uff08telephone receiver\uff09\u306b\u5f2f\u66f2\u3057\u307e\u3059\u304c\u3001BBDS\u307b\u3069\u9577\u7ba1\u9aa8\u306e\u4f4e\u5f62\u6210\u3084\u9396\u9aa8\u7570\u5e38\u306f\u76ee\u7acb\u3061\u307e\u305b\u3093\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Stuve-Wiedemann\u75c7\u5019\u7fa4\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li><em>\u539f\u56e0\uff1a<\/em> LIFR\u907a\u4f1d\u5b50\u5909\u7570\u3002<\/li>\n\n\n\n<li><em>\u9055\u3044\uff1a<\/em> \u81ea\u5f8b\u795e\u7d4c\u4e0d\u5168\uff08\u767a\u6c57\u7570\u5e38\u3084\u4f53\u6e29\u8abf\u7bc0\u969c\u5bb3\uff09\u3092\u4f34\u3046\u70b9\u304c\u7279\u5fb4\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ol>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%A2%BA%E5%AE%9A%E8%A8%BA%E6%96%AD\"><\/span><strong>\u78ba\u5b9a\u8a3a\u65ad<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u6700\u7d42\u7684\u306b\u306f\u3001\u81e8\u5e8a\u75c7\u72b6\u3068\u753b\u50cf\u6240\u898b\u306b\u57fa\u3065\u304d\u3001FGFR2\u907a\u4f1d\u5b50\u306e\u907a\u4f1d\u5b50\u89e3\u6790\uff08\u30bf\u30fc\u30b2\u30c3\u30c8\u30b7\u30fc\u30b1\u30f3\u30b9\u7b49\uff09\u306b\u3088\u3063\u3066\u819c\u8cab\u901a\u30c9\u30e1\u30a4\u30f3\u306e\u5909\u7570\u3092\u78ba\u8a8d\u3059\u308b\u3053\u3068\u3067\u78ba\u5b9a\u8a3a\u65ad\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\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\/33880960_s.webp\" alt=\"\u533b\u7642\" class=\"wp-image-122299\"\/><\/figure><\/div>\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"4_%E3%83%9E%E3%83%8D%E3%82%B8%E3%83%A1%E3%83%B3%E3%83%88%E3%81%A8%E4%BA%88%E5%BE%8C%E3%81%AE%E5%8E%B3%E3%81%97%E3%81%95\"><\/span><strong>4. \u30de\u30cd\u30b8\u30e1\u30f3\u30c8\u3068\u4e88\u5f8c\u306e\u53b3\u3057\u3055<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u6b8b\u5ff5\u306a\u304c\u3089\u3001Bent Bone Dysplasia\u75c7\u5019\u7fa4\u306f\u73fe\u4ee3\u533b\u5b66\u306b\u304a\u3044\u3066\u3082\u6975\u3081\u3066\u4e88\u5f8c\u304c\u4e0d\u826f\u306a\u75be\u60a3\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%9B%86%E4%B8%AD%E6%B2%BB%E7%99%82%E3%81%A8%E5%AF%BE%E7%97%87%E7%99%82%E6%B3%95\"><\/span><strong>\u96c6\u4e2d\u6cbb\u7642\u3068\u5bfe\u75c7\u7642\u6cd5<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u51fa\u751f\u76f4\u5f8c\u304b\u3089\u3001\u4ee5\u4e0b\u306e\u91cd\u7be4\u306a\u5408\u4f75\u75c7\u306b\u5bfe\u3059\u308b\u4ecb\u5165\u304c\u6c42\u3081\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u547c\u5438\u7ba1\u7406\uff1a<\/strong> \u5c0f\u984e\u75c7\u3084\u80f8\u90ed\u306e\u4f4e\u5f62\u6210\u306b\u3088\u308a\u3001\u6c17\u9053\u78ba\u4fdd\u304c\u56f0\u96e3\u306a\u3053\u3068\u304c\u591a\u304f\u3001\u591a\u304f\u306e\u5834\u5408\u3067\u4eba\u5de5\u547c\u5438\u7ba1\u7406\u304c\u5fc5\u8981\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u982d\u84cb\u5185\u5727\u7ba1\u7406\uff1a<\/strong> \u982d\u84cb\u7e2b\u5408\u65e9\u671f\u958b\u901a\u75c7\u306b\u4f34\u3046\u6025\u6fc0\u306a\u982d\u84cb\u5185\u5727\u4ea2\u9032\u306b\u5bfe\u3057\u3001\u8133\u5916\u79d1\u7684\u4ecb\u5165\u304c\u691c\u8a0e\u3055\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u304c\u3001\u5168\u8eab\u72b6\u614b\u3068\u306e\u517c\u306d\u5408\u3044\u3067\u56f0\u96e3\u306a\u30b1\u30fc\u30b9\u304c\u307b\u3068\u3093\u3069\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%81%BA%E4%BC%9D%E3%82%AB%E3%82%A6%E3%83%B3%E3%82%BB%E3%83%AA%E3%83%B3%E3%82%B0\"><\/span><strong>\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>BBDS\u306e\u591a\u304f\u306f\u7a81\u7136\u5909\u7570\uff08de novo\uff09\u3067\u3059\u304c\u3001\u89aa\u304c\u6027\u817a<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mosaicism\/\">\u30e2\u30b6\u30a4\u30af<\/a>\u3092\u4fdd\u6301\u3057\u3066\u3044\u308b\u53ef\u80fd\u6027\u3082\u5b8c\u5168\u306b\u306f\u5426\u5b9a\u3067\u304d\u306a\u3044\u305f\u3081\u3001\u6b21\u5b50\u4ee5\u964d\u306e\u518d\u767a\u30ea\u30b9\u30af\u306b\u3064\u3044\u3066\u306f\u3001\u5c02\u9580\u306e\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30e9\u30fc\u306b\u3088\u308b\u4e01\u5be7\u306a\u8aac\u660e\u304c\u4e0d\u53ef\u6b20\u3067\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"5_%E6%9C%80%E6%96%B0%E3%81%AE%E7%A0%94%E7%A9%B6%E5%8B%95%E5%90%91%E3%81%A8%E5%B0%86%E6%9D%A5%E3%81%AE%E5%B1%95%E6%9C%9B\"><\/span><strong>5. \u6700\u65b0\u306e\u7814\u7a76\u52d5\u5411\u3068\u5c06\u6765\u306e\u5c55\u671b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u73fe\u5728\u3001FGFR2\u30b7\u30b0\u30ca\u30eb\u306e\u904e\u5270\u6d3b\u6027\u5316\u3092\u6291\u5236\u3059\u308b\u300c\u30c1\u30ed\u30b7\u30f3\u30ad\u30ca\u30fc\u30bc\u963b\u5bb3\u5264\u300d\u3084\u3001\u53ef\u6eb6\u6027FGFR2\u3092\u7528\u3044\u305f\u30c7\u30b3\u30a4\u53d7\u5bb9\u4f53\u7642\u6cd5\u306e\u7814\u7a76\u304c\u9032\u3093\u3067\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u308c\u3089\u306f\u73fe\u5728\u3001\u8edf\u9aa8\u7121\u5f62\u6210\u75c7\uff08FGFR3\u95a2\u9023\uff09\u306a\u3069\u3067\u306e\u81e8\u5e8a\u5fdc\u7528\u304c\u5148\u884c\u3057\u3066\u3044\u307e\u3059\u304c\u3001BBDS\u306e\u3088\u3046\u306a\u91cd\u7be4\u306aFGFR2\u95a2\u9023\u9aa8\u75be\u60a3\u306b\u5bfe\u3057\u3066\u3082\u3001\u80ce\u5150\u671f\u304b\u3089\u306e\u65e9\u671f\u4ecb\u5165\u304c\u53ef\u80fd\u306b\u306a\u308c\u3070\u3001\u5c06\u6765\u7684\u306b\u4e88\u5f8c\u3092\u6539\u5584\u3067\u304d\u308b\u53ef\u80fd\u6027\u3092\u79d8\u3081\u3066\u3044\u307e\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>Bent Bone Dysplasia\u75c7\u5019\u7fa4\uff08BBDS\uff09\u306f\u3001FGFR2\u5909\u7570\u304c\u3082\u305f\u3089\u3059\u6700\u3082\u91cd\u7be4\u306a\u9aa8\u7cfb\u7d71\u75be\u60a3\u306e\u4e00\u3064\u3067\u3059\u3002\u305d\u306e\u7279\u5fb4\u7684\u306a\u300c\u9aa8\u306e\u5c48\u66f2\u300d\u3068\u300c\u982d\u84cb\u5f62\u6210\u4e0d\u5168\u300d\u306f\u3001\u7d30\u80de\u5185\u30b7\u30b0\u30ca\u30eb\u4f1d\u9054\u306e\u6975\u7aef\u306a\u66b4\u8d70\u3092\u53cd\u6620\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u533b\u7642\u5f93\u4e8b\u8005\u306b\u306f\u3001\u51fa\u751f\u524d\u306e\u8d85\u97f3\u6ce2\u8a3a\u65ad\u306b\u304a\u3051\u308b\u65e9\u671f\u767a\u898b\u3068\u3001\u51fa\u751f\u5f8c\u306e\u8fc5\u901f\u306a\u907a\u4f1d\u5b66\u7684\u78ba\u8a8d\u3001\u305d\u3057\u3066\u3054\u5bb6\u65cf\u306b\u5bfe\u3059\u308b\u8aa0\u5b9f\u304b\u3064\u5c02\u9580\u7684\u306a\u30b5\u30dd\u30fc\u30c8\u304c\u6c42\u3081\u3089\u308c\u307e\u3059\u3002\u3053\u306e\u7a00\u306a\u75be\u60a3\u306e\u60c5\u5831\u3092\u84c4\u7a4d\u3057\u3066\u3044\u304f\u3053\u3068\u304c\u3001\u5c06\u6765\u7684\u306a\u75c5\u614b\u89e3\u660e\u3068\u6cbb\u7642\u6cd5\u958b\u767a\u3078\u306e\u552f\u4e00\u306e\u9053\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\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","protected":false},"excerpt":{"rendered":"Bent Bone Dysplasia\u75c7&#8230;\n <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/bent-bone-dysplasia-syndrome-fgfr2-symptoms-diagnosis\/\">\u7d9a\u304d\u3092\u8aad\u3080<\/a>","protected":false},"author":122,"featured_media":119930,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[1392],"tags":[],"class_list":["post-122545","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\/122545","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=122545"}],"version-history":[{"count":2,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/122545\/revisions"}],"predecessor-version":[{"id":126203,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/122545\/revisions\/126203"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media\/119930"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=122545"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=122545"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=122545"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}