{"id":122557,"date":"2026-01-14T10:59:39","date_gmt":"2026-01-14T01:59:39","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=122557"},"modified":"2026-03-27T16:28:04","modified_gmt":"2026-03-27T07:28:04","slug":"boomerang-dysplasia-flnb-genetics-clinical-features","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/boomerang-dysplasia-flnb-genetics-clinical-features\/","title":{"rendered":"Boomerang dysplasia"},"content":{"rendered":"\n<p>Boomerang dysplasia\uff08\u30d6\u30fc\u30e1\u30e9\u30f3\u578b\u9aa8\u7570\u5f62\u6210\u75c7\uff09\u306f\u30011987\u5e74\u306bSillence\u3089\u306b\u3088\u3063\u3066\u547d\u540d\u3055\u308c\u305f\u3001\u65b0\u751f\u5150\u671f\u306b\u81f4\u6b7b\u7684\u7d4c\u904e\u3092\u305f\u3069\u308b\u6975\u3081\u3066\u7a00\u306a\u9aa8\u7cfb\u7d71\u75be\u60a3\u3067\u3059\u3002\u305d\u306e\u540d\u79f0\u306f\u3001\u653e\u5c04\u7dda\u5b66\u7684\u306b\u5927\u817f\u9aa8\u3084\u4e0a\u8155\u9aa8\u306a\u3069\u306e\u9577\u7ba1\u9aa8\u304c\u3001\u3042\u305f\u304b\u3082\u30d6\u30fc\u30e1\u30e9\u30f3\u306e\u3088\u3046\u306b\u8457\u3057\u304f\u5f2f\u66f2\u3057\u3001\u5148\u7aef\u304c\u5c16\u3063\u305f\u5f62\u72b6\u3092\u5448\u3059\u308b\u3053\u3068\u306b\u7531\u6765\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75be\u60a3\u306f\u3001\u7d30\u80de\u9aa8\u683c\u306e\u52d5\u614b\u3092\u5236\u5fa1\u3059\u308b\u30d5\u30a3\u30e9\u30df\u30f3B\uff08FLNB\uff09\u306e\u7570\u5e38\u306b\u3088\u3063\u3066\u751f\u3058\u307e\u3059\u3002\u672c\u7a3f\u3067\u306f\u3001Boomerang dysplasia\u306e\u81e8\u5e8a\u7684\u7279\u5fb4\u3001\u653e\u5c04\u7dda\u5b66\u7684\u6240\u898b\u3001\u304a\u3088\u3073\u6700\u65b0\u306e\u907a\u4f1d\u5b66\u7684\u77e5\u898b\u306b\u3064\u3044\u3066\u3001\u5c02\u9580\u7684\u306a\u8996\u70b9\u304b\u3089\u5305\u62ec\u7684\u306b\u89e3\u8aac\u3057\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\n\n\n\n\n\n<div id=\"ez-toc-container\" class=\"ez-toc-v2_0_84 counter-hierarchy ez-toc-counter ez-toc-grey ez-toc-container-direction\">\n<div class=\"ez-toc-title-container\">\n<p class=\"ez-toc-title\" style=\"cursor:inherit\">\u76ee\u6b21<\/p>\n<span class=\"ez-toc-title-toggle\"><a href=\"#\" 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\" 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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\/boomerang-dysplasia-flnb-genetics-clinical-features\/#%E3%83%95%E3%82%A3%E3%83%A9%E3%83%9F%E3%83%B3B%E3%81%AE%E5%BD%B9%E5%89%B2%E3%81%A8%E9%AA%A8%E5%BD%A2%E6%88%90\" >\u30d5\u30a3\u30e9\u30df\u30f3B\u306e\u5f79\u5272\u3068\u9aa8\u5f62\u6210<\/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\/boomerang-dysplasia-flnb-genetics-clinical-features\/#%E5%A4%89%E7%95%B0%E3%81%AE%E3%83%A1%E3%82%AB%E3%83%8B%E3%82%BA%E3%83%A0\" >\u5909\u7570\u306e\u30e1\u30ab\u30cb\u30ba\u30e0<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-4\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/boomerang-dysplasia-flnb-genetics-clinical-features\/#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-5\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/boomerang-dysplasia-flnb-genetics-clinical-features\/#%E2%91%A0_%E9%95%B7%E7%AE%A1%E9%AA%A8%E3%81%AE%E3%80%8C%E3%83%96%E3%83%BC%E3%83%A1%E3%83%A9%E3%83%B3%E6%A7%98%E3%80%8D%E5%BC%AF%E6%9B%B2%E3%81%A8%E4%BD%8E%E5%BD%A2%E6%88%90\" >\u2460 \u9577\u7ba1\u9aa8\u306e\u300c\u30d6\u30fc\u30e1\u30e9\u30f3\u69d8\u300d\u5f2f\u66f2\u3068\u4f4e\u5f62\u6210<\/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\/boomerang-dysplasia-flnb-genetics-clinical-features\/#%E2%91%A1_%E7%89%B9%E5%BE%B4%E7%9A%84%E3%81%AA%E9%A1%94%E8%B2%8C%EF%BC%88Facial_Dysmorphism%EF%BC%89\" >\u2461 \u7279\u5fb4\u7684\u306a\u9854\u8c8c\uff08Facial Dysmorphism\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\/boomerang-dysplasia-flnb-genetics-clinical-features\/#%E2%91%A2_%E5%A4%9A%E7%99%BA%E6%80%A7%E9%96%A2%E7%AF%80%E6%8B%98%E7%B8%AE%E3%81%A8%E8%BA%AB%E4%BD%93%E6%89%80%E8%A6%8B\" >\u2462 \u591a\u767a\u6027\u95a2\u7bc0\u62d8\u7e2e\u3068\u8eab\u4f53\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-8\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/boomerang-dysplasia-flnb-genetics-clinical-features\/#3_%E8%A8%BA%E6%96%AD%E3%81%A8%E9%91%91%E5%88%A5%E8%A8%BA%E6%96%AD%EF%BC%9AFLNB%E9%96%A2%E9%80%A3%E7%96%BE%E6%82%A3%E3%81%AE%E3%82%B9%E3%83%9A%E3%82%AF%E3%83%88%E3%83%A9%E3%83%A0\" >3. \u8a3a\u65ad\u3068\u9451\u5225\u8a3a\u65ad\uff1aFLNB\u95a2\u9023\u75be\u60a3\u306e\u30b9\u30da\u30af\u30c8\u30e9\u30e0<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-9\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/boomerang-dysplasia-flnb-genetics-clinical-features\/#%E9%91%91%E5%88%A5%E3%81%99%E3%81%B9%E3%81%8D%E4%B8%BB%E8%A6%81%E3%81%AAFLNB%E9%96%A2%E9%80%A3%E7%96%BE%E6%82%A3\" >\u9451\u5225\u3059\u3079\u304d\u4e3b\u8981\u306aFLNB\u95a2\u9023\u75be\u60a3<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-10\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/boomerang-dysplasia-flnb-genetics-clinical-features\/#%E8%A8%BA%E6%96%AD%E3%81%AE%E7%A2%BA%E5%AE%9A\" >\u8a3a\u65ad\u306e\u78ba\u5b9a<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-11\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/boomerang-dysplasia-flnb-genetics-clinical-features\/#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\" >4. \u30de\u30cd\u30b8\u30e1\u30f3\u30c8\u3068\u4e88\u5f8c<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-12\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/boomerang-dysplasia-flnb-genetics-clinical-features\/#%E8%87%A8%E5%BA%8A%E7%9A%84%E7%B5%8C%E9%81%8E\" >\u81e8\u5e8a\u7684\u7d4c\u904e<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-13\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/boomerang-dysplasia-flnb-genetics-clinical-features\/#%E5%AE%B6%E6%97%8F%E3%81%B8%E3%81%AE%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\" >\u5bb6\u65cf\u3078\u306e\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-14\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/boomerang-dysplasia-flnb-genetics-clinical-features\/#5_%E6%9C%80%E6%96%B0%E3%81%AE%E7%A0%94%E7%A9%B6%E5%8B%95%E5%90%91%EF%BC%9A%E7%B4%B0%E8%83%9E%E9%AA%A8%E6%A0%BC%E3%81%A8%E9%AA%A8%E5%BD%A2%E6%88%90%E3%81%AE%E6%8E%A5%E7%82%B9\" >5. \u6700\u65b0\u306e\u7814\u7a76\u52d5\u5411\uff1a\u7d30\u80de\u9aa8\u683c\u3068\u9aa8\u5f62\u6210\u306e\u63a5\u70b9<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-15\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/boomerang-dysplasia-flnb-genetics-clinical-features\/#%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_%E7%97%85%E5%9B%A0%EF%BC%9AFLNB%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%A8%E3%83%95%E3%82%A3%E3%83%A9%E3%83%9F%E3%83%B3B%E3%81%AE%E6%A9%9F%E8%83%BD%E7%95%B0%E5%B8%B8\"><\/span><strong>1. \u75c5\u56e0\uff1aFLNB\u907a\u4f1d\u5b50\u3068\u30d5\u30a3\u30e9\u30df\u30f3B\u306e\u6a5f\u80fd\u7570\u5e38<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>Boomerang dysplasia\u306e\u539f\u56e0\u306f\u3001\u7b2c3\u67d3\u8272\u4f53\uff083p14.3\uff09\u306b\u4f4d\u7f6e\u3059\u308b<strong>FLNB\u907a\u4f1d\u5b50<\/strong>\u306e\u30d8\u30c6\u30ed\u63a5\u5408\u578b\u5909\u7570\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%83%95%E3%82%A3%E3%83%A9%E3%83%9F%E3%83%B3B%E3%81%AE%E5%BD%B9%E5%89%B2%E3%81%A8%E9%AA%A8%E5%BD%A2%E6%88%90\"><\/span><strong>\u30d5\u30a3\u30e9\u30df\u30f3B\u306e\u5f79\u5272\u3068\u9aa8\u5f62\u6210<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>FLNB\u907a\u4f1d\u5b50\u306f\u3001\u30a2\u30af\u30c1\u30f3\u30d5\u30a3\u30e9\u30e1\u30f3\u30c8\u3092\u67b6\u6a4b\u3057\u3001\u7d30\u80de\u9aa8\u683c\u3092\u69cb\u9020\u5316\u3059\u308b\u30bf\u30f3\u30d1\u30af\u8cea\u300c\u30d5\u30a3\u30e9\u30df\u30f3B\u300d\u3092\u7b26\u53f7\u5316\u3057\u3066\u3044\u307e\u3059\u3002\u30d5\u30a3\u30e9\u30df\u30f3B\u306f\u3001\u8edf\u9aa8\u7d30\u80de\u306e\u5897\u6b96\u3001\u5206\u5316\u3001\u304a\u3088\u3073\u904a\u8d70\u306b\u304a\u3044\u3066\u6975\u3081\u3066\u91cd\u8981\u306a\u5f79\u5272\u3092\u679c\u305f\u3057\u3066\u304a\u308a\u3001\u7279\u306b\u9aa8\u306e\u4f38\u9577\u3068\u5f62\u72b6\u6c7a\u5b9a\u306b\u4e0d\u53ef\u6b20\u306a\u56e0\u5b50\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%A4%89%E7%95%B0%E3%81%AE%E3%83%A1%E3%82%AB%E3%83%8B%E3%82%BA%E3%83%A0\"><\/span><strong>\u5909\u7570\u306e\u30e1\u30ab\u30cb\u30ba\u30e0<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>Boomerang dysplasia\u3092\u5f15\u304d\u8d77\u3053\u3059\u5909\u7570\u306f\u3001\u591a\u304f\u304c\u30d5\u30a3\u30e9\u30df\u30f3B\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u7279\u5b9a\u306e\u30c9\u30e1\u30a4\u30f3\uff08\u7279\u306b\u30a2\u30af\u30c1\u30f3\u7d50\u5408\u30c9\u30e1\u30a4\u30f3\u4ed8\u8fd1\uff09\u306b\u304a\u3051\u308b\u6a5f\u80fd\u7372\u5f97\u578b\u5909\u7570\uff08Gain-of-function\uff09\u3067\u3042\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u5909\u7570\u306b\u3088\u308a\u3001\u8edf\u9aa8\u7d30\u80de\u306e\u5206\u5316\u30d7\u30ed\u30bb\u30b9\u304c\u8457\u3057\u304f\u4e71\u3055\u308c\u3001\u6b63\u5e38\u306a\u9aa8\u306e\u92f3\u578b\u304c\u5f62\u6210\u3055\u308c\u306a\u304f\u306a\u308a\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>\u672c\u75c7\u306e\u8a3a\u65ad\u306f\u3001\u51fa\u751f\u524d\u8d85\u97f3\u6ce2\u691c\u67fb\u3084\u51fa\u751f\u76f4\u5f8c\u306e\u5168\u8eab\u9aa8\u30ec\u30f3\u30c8\u30b2\u30f3\u5199\u771f\u306b\u304a\u3051\u308b\u6975\u3081\u3066\u7279\u5fb4\u7684\u306a\u6240\u898b\u306b\u3088\u3063\u3066\u306a\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A0_%E9%95%B7%E7%AE%A1%E9%AA%A8%E3%81%AE%E3%80%8C%E3%83%96%E3%83%BC%E3%83%A1%E3%83%A9%E3%83%B3%E6%A7%98%E3%80%8D%E5%BC%AF%E6%9B%B2%E3%81%A8%E4%BD%8E%E5%BD%A2%E6%88%90\"><\/span><strong>\u2460 \u9577\u7ba1\u9aa8\u306e\u300c\u30d6\u30fc\u30e1\u30e9\u30f3\u69d8\u300d\u5f2f\u66f2\u3068\u4f4e\u5f62\u6210<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7279\u7570\u306a\u5f62\u72b6\uff1a<\/strong> \u4e0a\u8155\u9aa8\u3084\u5927\u817f\u9aa8\u304c\u8457\u3057\u304f\u77ed\u7e2e\u3057\u3001\u5f13\u72b6\u306b\u5f2f\u66f2\u3057\u307e\u3059\u3002\u9aa8\u306e\u4e21\u7aef\u304c\u4f4e\u5f62\u6210\uff08\u3042\u308b\u3044\u306f\u6b20\u640d\uff09\u3057\u3001\u4e2d\u592e\u90e8\u304c\u30d6\u30fc\u30e1\u30e9\u30f3\u306e\u3088\u3046\u306b\u5c16\u3063\u305f\u5f62\u72b6\uff08pointing\uff09\u3092\u5448\u3059\u308b\u306e\u304c\u6700\u5927\u306e\u7279\u5fb4\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u9aa8\u5316\u4e0d\u5168\uff1a<\/strong> \u690e\u4f53\u3084\u9aa8\u76e4\u3001\u624b\u8db3\u306e\u9aa8\u306b\u304a\u3044\u3066\u3082\u5e83\u7bc4\u306a\u9aa8\u5316\u306e\u9045\u5ef6\u3084\u6b20\u640d\u304c\u8a8d\u3081\u3089\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A1_%E7%89%B9%E5%BE%B4%E7%9A%84%E3%81%AA%E9%A1%94%E8%B2%8C%EF%BC%88Facial_Dysmorphism%EF%BC%89\"><\/span><strong>\u2461 \u7279\u5fb4\u7684\u306a\u9854\u8c8c\uff08Facial Dysmorphism\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u4e2d\u592e\u9854\u9762\u306e\u4f4e\u5f62\u6210\uff1a<\/strong> \u9f3b\u6839\u90e8\u304c\u8457\u3057\u304f\u9665\u51f9\u3057\u3001\u984d\u304c\u7a81\u51fa\u3057\u305f\u300c\u524d\u982d\u90e8\u7a81\u51fa\u300d\u304c\u9855\u8457\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u773c\u7403\u7a81\u51fa\uff1a<\/strong> \u773c\u7aa9\u306e\u5f62\u6210\u4e0d\u5168\u306b\u4f34\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5c0f\u984e\u75c7\uff1a<\/strong> \u4e0b\u984e\u304c\u8457\u3057\u304f\u5c0f\u3055\u304f\u3001\u3053\u308c\u304c\u6c17\u9053\u78ba\u4fdd\u306e\u56f0\u96e3\u3055\u306b\u76f4\u7d50\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A2_%E5%A4%9A%E7%99%BA%E6%80%A7%E9%96%A2%E7%AF%80%E6%8B%98%E7%B8%AE%E3%81%A8%E8%BA%AB%E4%BD%93%E6%89%80%E8%A6%8B\"><\/span><strong>\u2462 \u591a\u767a\u6027\u95a2\u7bc0\u62d8\u7e2e\u3068\u8eab\u4f53\u6240\u898b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u95a2\u7bc0\u306e\u7570\u5e38\uff1a<\/strong> \u8098\u3001\u819d\u3001\u624b\u9996\u306a\u3069\u306e\u5927\u304d\u306a\u95a2\u7bc0\u306b\u304a\u3044\u3066\u3001\u51fa\u751f\u6642\u304b\u3089\u5f37\u56fa\u306a\u62d8\u7e2e\uff08\u66f2\u304c\u3063\u305f\u307e\u307e\u56fa\u307e\u308b\u72b6\u614b\uff09\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8179\u58c1\u6b20\u640d\uff1a<\/strong> \u75c7\u4f8b\u306b\u3088\u3063\u3066\u306f\u3001\u81cd\u5e2f\u30d8\u30eb\u30cb\u30a2\u306a\u3069\u306e\u8179\u58c1\u9589\u9396\u4e0d\u5168\u3092\u5408\u4f75\u3059\u308b\u3053\u3068\u304c\u3042\u308a\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%9AFLNB%E9%96%A2%E9%80%A3%E7%96%BE%E6%82%A3%E3%81%AE%E3%82%B9%E3%83%9A%E3%82%AF%E3%83%88%E3%83%A9%E3%83%A0\"><\/span><strong>3. \u8a3a\u65ad\u3068\u9451\u5225\u8a3a\u65ad\uff1aFLNB\u95a2\u9023\u75be\u60a3\u306e\u30b9\u30da\u30af\u30c8\u30e9\u30e0<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>FLNB\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306f\u3001\u305d\u306e\u5909\u7570\u90e8\u4f4d\u3084\u6027\u8cea\u306b\u3088\u3063\u3066\u3001\u8efd\u75c7\u304b\u3089\u81f4\u6b7b\u6027\u307e\u3067\u5e45\u5e83\u3044\u75be\u60a3\u7fa4\uff08FLNB\u95a2\u9023\u75be\u60a3\u30b9\u30da\u30af\u30c8\u30e9\u30e0\uff09\u3092\u5f62\u6210\u3057\u307e\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%E3%81%AAFLNB%E9%96%A2%E9%80%A3%E7%96%BE%E6%82%A3\"><\/span><strong>\u9451\u5225\u3059\u3079\u304d\u4e3b\u8981\u306aFLNB\u95a2\u9023\u75be\u60a3<\/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>\u75be\u60a3\u540d<\/strong><\/td><td><strong>\u91cd\u75c7\u5ea6<\/strong><\/td><td><strong>\u4e3b\u306a\u7279\u5fb4\uff08Boomerang dysplasia\u3068\u306e\u9055\u3044\uff09<\/strong><\/td><\/tr><tr><td><strong>Boomerang dysplasia<\/strong><\/td><td>\u81f4\u6b7b\u6027<\/td><td><strong>\u6700\u3082\u91cd\u75c7\u3002<\/strong> \u9577\u7ba1\u9aa8\u306e\u8457\u3057\u3044\u5f2f\u66f2\u3068\u5c16\u3063\u305f\u5148\u7aef\u3002<\/td><\/tr><tr><td><strong>Atelosteogenesis I\/III\u578b<\/strong><\/td><td>\u81f4\u6b7b\u6027\u301c\u91cd\u75c7<\/td><td>\u9aa8\u5316\u4e0d\u5168\u306f\u898b\u3089\u308c\u308b\u304c\u3001\u9577\u7ba1\u9aa8\u306e\u300c\u30d6\u30fc\u30e1\u30e9\u30f3\u69d8\u300d\u5f2f\u66f2\u306f\u672c\u75c7\u307b\u3069\u9855\u8457\u3067\u306f\u306a\u3044\u3002<\/td><\/tr><tr><td><strong>Larsen\u75c7\u5019\u7fa4<\/strong><\/td><td>\u975e\u81f4\u6b7b\u6027<\/td><td>\u591a\u767a\u95a2\u7bc0\u8131\u81fc\u304c\u4e3b\u3002\u9577\u7ba1\u9aa8\u306e\u81f4\u547d\u7684\u306a\u5909\u5f62\u306f\u4f34\u308f\u306a\u3044\u3002<\/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%E3%81%AE%E7%A2%BA%E5%AE%9A\"><\/span><strong>\u8a3a\u65ad\u306e\u78ba\u5b9a<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u81e8\u5e8a\u7684\u30fb\u653e\u5c04\u7dda\u5b66\u7684\u6240\u898b\u3067\u672c\u75c7\u3092\u5f37\u304f\u7591\u3046\u5834\u5408\u3001<strong>FLNB\u907a\u4f1d\u5b50\u306e\u30bf\u30fc\u30b2\u30c3\u30c8\u89e3\u6790<\/strong>\u3092\u884c\u3044\u3001\u65e2\u5831\u306e\u5909\u7570\u3092\u78ba\u8a8d\u3059\u308b\u3053\u3068\u3067\u8a3a\u65ad\u3092\u78ba\u5b9a\u3057\u307e\u3059\u3002<\/p>\n\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\"><\/span><strong>4. \u30de\u30cd\u30b8\u30e1\u30f3\u30c8\u3068\u4e88\u5f8c<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>Boomerang dysplasia\u306f\u81f4\u6b7b\u6027\u9aa8\u7570\u5f62\u6210\u75c7\u306b\u5206\u985e\u3055\u308c\u3001\u6975\u3081\u3066\u4e88\u5f8c\u304c\u53b3\u3057\u3044\u75be\u60a3\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%87%A8%E5%BA%8A%E7%9A%84%E7%B5%8C%E9%81%8E\"><\/span><strong>\u81e8\u5e8a\u7684\u7d4c\u904e<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u547c\u5438\u4e0d\u5168\uff1a<\/strong> \u80f8\u90ed\u306e\u8457\u3057\u3044\u4f4e\u5f62\u6210\uff08\u80ba\u4f4e\u5f62\u6210\uff09\u304a\u3088\u3073\u6c17\u9053\u4e0a\u90e8\u306e\u69cb\u9020\u7570\u5e38\u306b\u3088\u308a\u3001\u51fa\u751f\u76f4\u5f8c\u304b\u3089\u91cd\u5ea6\u306e\u547c\u5438\u4e0d\u5168\u3092\u5448\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u96c6\u5b66\u7684\u30a2\u30d7\u30ed\u30fc\u30c1\u306e\u9650\u754c\uff1a<\/strong> \u73fe\u4ee3\u306e\u65b0\u751f\u5150\u96c6\u4e2d\u6cbb\u7642\uff08NICU\uff09\u306b\u304a\u3044\u3066\u3082\u3001\u6839\u6cbb\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u5b58\u5728\u305b\u305a\u3001\u59d1\u606f\u7684\u306a\u5bfe\u75c7\u7642\u6cd5\u304c\u4e3b\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%AE%B6%E6%97%8F%E3%81%B8%E3%81%AE%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>\u5bb6\u65cf\u3078\u306e\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u672c\u75c7\u306e\u591a\u304f\u306f\u7a81\u7136\u5909\u7570\uff08de novo mutation\uff09\u306b\u3088\u308b\u3082\u306e\u3067\u3059\u304c\u3001\u6b21\u5b50\u518d\u767a\u30ea\u30b9\u30af\u306e\u8a55\u4fa1\u3084\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\u306e\u9078\u629e\u80a2\u306b\u3064\u3044\u3066\u3001\u81e8\u5e8a\u907a\u4f1d\u5c02\u9580\u533b\u306b\u3088\u308b\u8a73\u7d30\u306a\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u304c\u5fc5\u8981\u3067\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\/34023712_s.webp\" alt=\"\u533b\u8005\" class=\"wp-image-121690\"\/><\/figure><\/div>\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%EF%BC%9A%E7%B4%B0%E8%83%9E%E9%AA%A8%E6%A0%BC%E3%81%A8%E9%AA%A8%E5%BD%A2%E6%88%90%E3%81%AE%E6%8E%A5%E7%82%B9\"><\/span><strong>5. \u6700\u65b0\u306e\u7814\u7a76\u52d5\u5411\uff1a\u7d30\u80de\u9aa8\u683c\u3068\u9aa8\u5f62\u6210\u306e\u63a5\u70b9<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u8fd1\u5e74\u3001\u30d5\u30a3\u30e9\u30df\u30f3B\u304cTGF-\u03b2\u30b7\u30b0\u30ca\u30eb\u3084BMP\u30b7\u30b0\u30ca\u30eb\u3068\u3044\u3063\u305f\u3001\u9aa8\u5f62\u6210\u306b\u4e0d\u53ef\u6b20\u306a\u30b7\u30b0\u30ca\u30eb\u4f1d\u9054\u7d4c\u8def\u3068\u3069\u306e\u3088\u3046\u306b\u76f8\u4e92\u4f5c\u7528\u3057\u3066\u3044\u308b\u304b\u304c\u89e3\u660e\u3055\u308c\u3064\u3064\u3042\u308a\u307e\u3059\u3002Boomerang dysplasia\u306e\u75c5\u614b\u89e3\u660e\u306f\u3001\u5358\u306b\u5e0c\u5c11\u75be\u60a3\u306e\u7406\u89e3\u306b\u7559\u307e\u3089\u305a\u3001\u4e00\u822c\u7684\u306a\u9aa8\u6298\u6cbb\u7652\u3084\u9aa8\u7c97\u9b06\u75c7\u306b\u304a\u3051\u308b\u9aa8\u306e\u30ea\u30e2\u30c7\u30ea\u30f3\u30b0\u30e1\u30ab\u30cb\u30ba\u30e0\u3092\u7406\u89e3\u3059\u308b\u305f\u3081\u306e\u91cd\u8981\u306a\u9375\u3068\u306a\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\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>Boomerang dysplasia\u306f\u3001FLNB\u907a\u4f1d\u5b50\u306e\u5909\u7570\u304c\u3082\u305f\u3089\u3059\u3001\u9aa8\u7cfb\u7d71\u75be\u60a3\u306e\u4e2d\u3067\u3082\u6700\u3082\u8996\u899a\u7684\u306b\u885d\u6483\u7684\u304b\u3064\u91cd\u7be4\u306a\u8868\u73fe\u578b\u306e\u4e00\u3064\u3067\u3059\u3002\u305d\u306e\u300c\u30d6\u30fc\u30e1\u30e9\u30f3\u69d8\u300d\u306e\u9aa8\u5909\u5f62\u306f\u3001\u7d30\u80de\u30ec\u30d9\u30eb\u3067\u306e\u30a2\u30af\u30c1\u30f3\u9aa8\u683c\u306e\u5d29\u58ca\u304c\u5168\u8eab\u306e\u5f62\u614b\u5f62\u6210\u3092\u3044\u304b\u306b\u5287\u7684\u306b\u5909\u3048\u3066\u3057\u307e\u3046\u304b\u3092\u7269\u8a9e\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75be\u60a3\u306e\u8a3a\u65ad\u306f\u3001\u3054\u5bb6\u65cf\u306b\u3068\u3063\u3066\u975e\u5e38\u306b\u56f0\u96e3\u306a\u73fe\u5b9f\u3092\u7a81\u304d\u3064\u3051\u308b\u3082\u306e\u3068\u306a\u308a\u307e\u3059\u3002\u533b\u7642\u5f93\u4e8b\u8005\u306b\u306f\u3001\u6b63\u78ba\u306a\u533b\u5b66\u7684\u60c5\u5831\u306e\u63d0\u4f9b\u3068\u540c\u6642\u306b\u3001\u5fc3\u7406\u7684\u306a\u793e\u4f1a\u7684\u652f\u63f4\u3092\u5305\u62ec\u7684\u306b\u63d0\u4f9b\u3059\u308b\u3053\u3068\u304c\u5f37\u304f\u6c42\u3081\u3089\u308c\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":"Boomerang dysplasia\uff08&#8230;\n <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/boomerang-dysplasia-flnb-genetics-clinical-features\/\">\u7d9a\u304d\u3092\u8aad\u3080<\/a>","protected":false},"author":122,"featured_media":118638,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[1392],"tags":[],"class_list":["post-122557","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\/122557","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=122557"}],"version-history":[{"count":2,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/122557\/revisions"}],"predecessor-version":[{"id":126206,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/122557\/revisions\/126206"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media\/118638"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=122557"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=122557"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=122557"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}