{"id":111927,"date":"2025-01-14T17:03:44","date_gmt":"2025-01-14T08:03:44","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/nablus-mask-like-facial-syndrome-overview\/"},"modified":"2025-08-22T15:22:44","modified_gmt":"2025-08-22T06:22:44","slug":"nablus-mask-like-facial-syndrome-overview","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/nablus-mask-like-facial-syndrome-overview\/?lang=zh-hans","title":{"rendered":"\u7eb3\u5e03\u5362\u65af\u9762\u5177\u6837\u9762\u5bb9\u7efc\u5408\u75c7\uff08NMLFS\uff09"},"content":{"rendered":"\n<div style=\"border:solid #ffe6e6 0.8rem;background-color: #fff9f9;padding:3% 5%;margin:1rem 0 3rem;\"><h2 style=\"margin-top:1rem;\">\u3053\u306e\u8a18\u4e8b\u306e\u307e\u3068\u3081<\/h2><p> \u7eb3\u5e03\u5362\u65af\u9762\u5177\u6837\u9762\u5bb9\u7efc\u5408\u75c7\u662f\u4e00\u79cd\u6781\u4e3a\u7f55\u89c1\u7684\u9057\u4f20\u6027\u75be\u75c5\uff0c\u5168\u7403\u62a5\u544a\u7684\u6848\u4f8b\u975e\u5e38\u5c11\u3002\u5176\u7279\u5f81\u6027\u7684\u9762\u90e8\u7279\u5f81\u4ee5\u53ca\u5bf9\u53d1\u80b2\u548c\u8eab\u4f53\u7684\u5f71\u54cd\u56e0\u4eba\u800c\u5f02\u3002\u672c\u6587\u5c06\u4e0e\u6700\u65b0\u7684\u533b\u5b66\u77e5\u8bc6\u4e00\u8d77\uff0c\u6e29\u548c\u5730\u89e3\u91ca\u8fd9\u4e00\u75be\u75c5\uff0c\u5e76\u5e2e\u52a9\u4eba\u4eec\u52a0\u6df1\u5bf9\u8fd9\u4e00\u75be\u75c5\u60a3\u8005\u7684\u7406\u89e3\uff0c\u5e76\u63d0\u4f9b\u652f\u6301\u3002\n<\/p><\/div>\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\" 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\/nablus-mask-like-facial-syndrome-overview\/?lang=zh-hans\/#%E5%88%AB%E5%90%8D\" >\u522b\u540d<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-2\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nablus-mask-like-facial-syndrome-overview\/?lang=zh-hans\/#%E7%96%BE%E7%97%85%E6%A6%82%E8%BF%B0\" >\u75be\u75c5\u6982\u8ff0<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-3\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nablus-mask-like-facial-syndrome-overview\/?lang=zh-hans\/#%E5%85%A8%E8%BA%AB%E7%97%87%E7%8A%B6%E4%B8%8E%E5%8F%91%E8%82%B2%E5%BC%82%E5%B8%B8\" 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href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nablus-mask-like-facial-syndrome-overview\/?lang=zh-hans\/#%E9%81%97%E4%BC%A0%E5%BD%A2%E5%BC%8F%E4%B8%8E%E9%81%97%E4%BC%A0%E8%83%8C%E6%99%AF\" >\u9057\u4f20\u5f62\u5f0f\u4e0e\u9057\u4f20\u80cc\u666f<\/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\/nablus-mask-like-facial-syndrome-overview\/?lang=zh-hans\/#%E8%AF%8A%E6%96%AD%E6%96%B9%E6%B3%95\" >\u8bca\u65ad\u65b9\u6cd5<\/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\/nablus-mask-like-facial-syndrome-overview\/?lang=zh-hans\/#%E6%9C%AA%E6%9D%A5%E7%9A%84%E7%A0%94%E7%A9%B6%E4%B8%8E%E7%97%85%E5%9B%A0%E8%A7%A3%E6%9E%90\" >\u672a\u6765\u7684\u7814\u7a76\u4e0e\u75c5\u56e0\u89e3\u6790<\/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\/nablus-mask-like-facial-syndrome-overview\/?lang=zh-hans\/#%E7%97%87%E7%8A%B6%E4%B8%8E%E7%AE%A1%E7%90%86\" >\u75c7\u72b6\u4e0e\u7ba1\u7406<\/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\/nablus-mask-like-facial-syndrome-overview\/?lang=zh-hans\/#%E6%9C%AA%E6%9D%A5%E5%B1%95%E6%9C%9B\" >\u672a\u6765\u5c55\u671b<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-11\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nablus-mask-like-facial-syndrome-overview\/?lang=zh-hans\/#%E5%8F%82%E8%80%83%E6%96%87%E7%8C%AE\" >\u53c2\u8003\u6587\u732e<\/a><\/li><\/ul><\/li><\/ul><\/nav><\/div>\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%88%AB%E5%90%8D\"><\/span><strong>\u522b\u540d<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u7eb3\u5e03\u5362\u65af\u9762\u5177\u6837\u9762\u5bb9\u7efc\u5408\u75c7\uff08Nablus Mask-Like Facial Syndrome\uff1bNMLFS\uff09<br><\/li>\n\n\n\n<li>8q22.1\u5fae\u7f3a\u5931\u7efc\u5408\u75c7\uff088q22.1 microdeletion syndrome\uff09<br><\/li>\n\n\n\n<li>\u5355\u4f53\u60278q22.1\uff08Monosomy 8q22.1\uff09<br><\/li>\n\n\n\n<li>\u53ef\u80fd\u4e0e\u773c\u7751\u9f3b\u9762\u7efc\u5408\u75c7\uff08Blepharo-Naso-Facial Syndrome\uff09\u91cd\u53e0<\/li>\n<\/ul>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%96%BE%E7%97%85%E6%A6%82%E8%BF%B0\"><\/span><strong>\u75be\u75c5\u6982\u8ff0<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large is-resized\"><img decoding=\"async\" width=\"1024\" height=\"20\" src=\"\/nipt\/wp-content\/uploads\/2025\/01\/8q22.1-hgtIdeo_genome_2fe3ec_6162f0-1024x20.png\" alt=\"8q22.1\" class=\"wp-image-89772\" style=\"width:1024px;height:auto\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u7eb3\u5e03\u5362\u65af\u9762\u5177\u6837\u9762\u5bb9\u7efc\u5408\u75c7\uff08NMLFS\uff09\u662f\u4e00\u79cd\u6781\u5176\u7f55\u89c1\u7684\u5148\u5929\u6027\u9057\u4f20\u6027\u75be\u75c5\uff0c\u7531\u7b2c8\u53f7\u67d3\u8272\u4f53\u957f\u81c2\uff088q\uff09\u76848q21.3\u81f38q22.1\u533a\u57df\u7684\u5fae\u5c0f\u7f3a\u5931\uff08microdeletion\uff09\u5f15\u8d77\u3002\u8be5\u75be\u75c5\u9996\u6b21\u4e8e2000\u5e74\u7531\u963f\u8d6b\u8fc8\u5fb7\u00b7\u7279\u6bd4\uff08Ahmad Teebi\uff09\u5728\u6765\u81ea\u5df4\u52d2\u65af\u5766\u7eb3\u5e03\u5362\u65af\u7684\u7537\u5b69\u8eab\u4e0a\u62a5\u544a\u3002\u6b64\u540e\uff0c\u901a\u8fc7\u8fdb\u4e00\u6b65\u7684\u75c5\u4f8b\u8ffd\u8e2a\u548c\u62a5\u544a\uff0c\u7279\u6709\u7684\u9762\u90e8\u7279\u5f81\u548c\u4e00\u5b9a\u7684\u53d1\u80b2\u548c\u7ed3\u6784\u5f02\u5e38\u5171\u540c\u5f97\u5230\u786e\u8ba4\uff0c\u6700\u7ec8\u88ab\u56fd\u9645\u8ba4\u5b9a\u4e3a\u72ec\u7acb\u7684\u7efc\u5408\u75c7\u3002<\/p>\n\n\n\n<p>\u8fd9\u4e00\u7efc\u5408\u75c7\u7684\u6700\u663e\u8457\u4e34\u5e8a\u7279\u5f81\u662f\u201c\u9762\u5177\u6837\u9762\u5bb9\u201d\uff0c\u5373\u9762\u90e8\u8868\u60c5\u65e0\u8868\u60c5\u4e14\u7d27\u7ef7\uff0c\u50cf\u6234\u7740\u9762\u5177\u4e00\u6837\u3002\u5177\u4f53\u8868\u73b0\u4e3a\u4ee5\u4e0b\u7279\u5f81\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u773c\u88c2\u72ed\u7a84\uff08blepharophimosis\uff09<\/strong>\uff1a\u773c\u775b\u88c2\u7f1d\u6c34\u5e73\u53d8\u7a84\uff0c\u770b\u8d77\u6765\u8f83\u5c0f\u3002<br><\/li>\n\n\n\n<li><strong>\u76ae\u80a4\u5149\u6cfd\u7d27\u7ef7\uff08taut, glistening skin\uff09<\/strong>\uff1a\u7279\u522b\u662f\u5728\u9f3b\u90e8\uff0c\u9762\u90e8\u76ae\u80a4\u6709\u5149\u6cfd\uff0c\u7f3a\u4e4f\u5f39\u6027\u3002<br><\/li>\n\n\n\n<li><strong>\u524d\u989d\u53d1\u578b\u5f02\u5e38\uff08upswept frontal hairline\uff09<\/strong>\uff1a\u4ece\u989d\u5934\u4e2d\u592e\u9006\u7acb\u7684\u6bdb\u53d1\uff0c\u5f62\u6210\u72ec\u7279\u7684\u53d1\u578b\u3002<br><\/li>\n\n\n\n<li><strong>\u7709\u6bdb\u7a00\u758f\u3001\u5f2f\u66f2\uff08sparse, arched eyebrows\uff09<\/strong>\uff1a\u8584\u4e14\u5f2f\u66f2\u7684\u7709\u6bdb\u3002<br><\/li>\n\n\n\n<li><strong>\u9f3b\u90e8\u5f02\u5e38\uff08flat and broad nasal bridge, bulbous tip\uff09<\/strong>\uff1a\u9f3b\u6881\u5e73\u5766\u4e14\u5bbd\uff0c\u9f3b\u5c16\u5706\u9f13\u3002<br><\/li>\n\n\n\n<li><strong>\u957f\u800c\u5e73\u6ed1\u7684\u4eba\u4e2d\uff08long, smooth philtrum\uff09<\/strong>\uff1a\u9f3b\u5b50\u4e0e\u4e0a\u5507\u4e4b\u95f4\u7684\u7eb5\u5411\u51f9\u69fd\u957f\u4e14\u5e73\u6ed1\u3002<br><\/li>\n\n\n\n<li><strong>\u5916\u7ffb\u7684\u4e0b\u5507\u4e0e\u5c0f\u4e0b\u5df4\uff08everted lower lip and micrognathia\uff09<\/strong>\uff1a\u4e0b\u5507\u5916\u7ffb\u7a81\u51fa\uff0c\u4e0b\u5df4\u8f83\u5c0f\uff08\u5c0f\u4e0b\u5df4\uff09\u3002<br><\/li>\n\n\n\n<li><strong>\u4e0a\u988c\u53d1\u80b2\u4e0d\u5168\uff08maxillary hypoplasia\uff09<\/strong>\uff1a\u4e0a\u988c\u53d1\u80b2\u4e0d\u826f\u3002<br><\/li>\n\n\n\n<li><strong>\u53cc\u4fa7\u9762\u988a\u51f9\u9677\uff08bilateral cheek dimples\uff09<\/strong>\uff1a\u9762\u988a\u4e24\u4fa7\u51fa\u73b0\u4e0d\u81ea\u7136\u7684\u51f9\u9677\u3002<br><\/li>\n\n\n\n<li><strong>\u8033\u90e8\u5f02\u5e38\uff08dysmorphic ears\uff09<\/strong>\uff1a\u8033\u6735\u5f62\u72b6\u5f02\u5e38\uff0c\u8033\u8f6e\u672a\u5b8c\u5168\u5c55\u5f00\u3002<br><\/li>\n\n\n\n<li><strong>\u524d\u989d\u53d1\u578b\u5f02\u5e38\uff08reverse hairline\uff09<\/strong>\uff1a\u524d\u989d\u5934\u53d1\u5411\u540e\u7ad6\u7acb\uff0c\u5f62\u6210\u7279\u5f81\u53d1\u578b\u3002<br><\/li>\n\n\n\n<li><strong>\u9633\u5149\u707f\u70c2\u7684\u8868\u60c5\uff08cheerful demeanor\uff09<\/strong>\uff1a\u8bb8\u591a\u62a5\u544a\u4e2d\u89c2\u5bdf\u5230\uff0c\u60a3\u8005\u901a\u5e38\u6027\u683c\u5f00\u6717\u3001\u53cb\u597d\u3002<br><\/li>\n<\/ul>\n\n\n\n<p>\u8fd9\u4e9b\u9762\u90e8\u7279\u5f81\u7684\u7ec4\u5408\u5171\u540c\u6784\u6210\u4e86\u6781\u5177\u7279\u8272\u7684\u201c\u9762\u5177\u6837\u9762\u5bb9\u201d\u3002<\/p>\n\n\n\n<div style=\"height:14px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\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\/2025\/01\/22344705_s.jpg\" alt=\"\u3060\u3053\" class=\"wp-image-89778\"\/><\/figure><\/div>\n\n\n<div style=\"height:14px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%85%A8%E8%BA%AB%E7%97%87%E7%8A%B6%E4%B8%8E%E5%8F%91%E8%82%B2%E5%BC%82%E5%B8%B8\"><\/span><strong>\u5168\u8eab\u75c7\u72b6\u4e0e\u53d1\u80b2\u5f02\u5e38<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>NMLFS\u901a\u5e38\u8fd8\u4f34\u968f\u6709\u591a\u7cfb\u7edf\u7684\u5148\u5929\u6027\u5f02\u5e38\u548c\u53d1\u80b2\u5ef6\u8fdf\uff0c\u5177\u4f53\u5305\u62ec\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u751f\u957f\u4e0e\u795e\u7ecf\u53d1\u80b2\u9886\u57df<\/strong>\uff1a<br>\n<ul class=\"wp-block-list\">\n<li>\u53d1\u5c55\u6027\u5ef6\u8fdf\uff08\u8fd0\u52a8\u548c\u8bed\u8a00\u5ef6\u8fdf\uff09<br><\/li>\n\n\n\n<li>\u8f7b\u5ea6\u81f3\u4e2d\u5ea6\u667a\u529b\u969c\u788d<br><\/li>\n\n\n\n<li>\u5c0f\u5934\u75c7\uff08\u5934\u56f4\u8f83\u5c0f\uff09<br><\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u808c\u9aa8\u5173\u8282\u5f02\u5e38<\/strong>\uff1a<br>\n<ul class=\"wp-block-list\">\n<li>\u808c\u5f20\u529b\u4f4e\u4e0b\uff08\u4f4e\u808c\u5f20\u529b\uff09<br><\/li>\n\n\n\n<li>\u5173\u8282\u631b\u7f29\uff08\u5173\u8282\u65e0\u6cd5\u5b8c\u5168\u4f38\u5c55\uff09<br><\/li>\n\n\n\n<li>\u5f2f\u66f2\u6307\u75c7\uff08camptodactyly\uff09<br><\/li>\n\n\n\n<li>\u6c99\u6ee9\u95f4\u9699\uff08\u811a\u8dbe\u95f4\u8ddd\u589e\u5927\uff09<br><\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u751f\u6b96\u5668\u5f02\u5e38<\/strong>\uff1a<br>\n<ul class=\"wp-block-list\">\n<li>\u9690\u777e\u75c7\uff08\u777e\u4e38\u672a\u4e0b\u964d\uff09<br><\/li>\n\n\n\n<li>\u9634\u56ca\u4f4e\u53d1\u80b2<br><\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u53e3\u8154\u53ca\u8033\u9f3b\u5589\u5f02\u5e38<\/strong>\uff1a<br>\n<ul class=\"wp-block-list\">\n<li>\u4e0a\u988c\u7a81\u51fa\u3001\u5f13\u5f62\u816d<br><\/li>\n\n\n\n<li>\u5507\u816d\u88c2\u6216\u816d\u88c2<br><\/li>\n\n\n\n<li>\u7259\u9f7f\u5f02\u5e38\uff08\u7259\u9f7f\u5148\u5929\u6027\u7f3a\u5931\u3001\u7259\u91c9\u8d28\u4f4e\u5f62\u6210\u3001\u5f00\u54ac\u7b49\uff09<br><\/li>\n\n\n\n<li>\u4e0b\u988c\u80a5\u539a<br><\/li>\n\n\n\n<li>\u820c\u80a5\u5927\uff08macroglossia\uff09<br><\/li>\n\n\n\n<li>\u611f\u97f3\u6027\u542c\u529b\u635f\u5931<br><\/li>\n\n\n\n<li>\u5589\u8f6f\u5316\u75c7\uff08laryngomalacia\uff09<br><\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5176\u4ed6\u5668\u5b98\u5f02\u5e38\u4e0e\u7578\u5f62<\/strong>\uff1a<br>\n<ul class=\"wp-block-list\">\n<li>\u8179\u80a1\u6c9f\u759d\u3001\u8179\u58c1\u759d\uff08\u4f8b\u5982\uff1aSpigelian\u759d\uff09<br><\/li>\n\n\n\n<li>\u5fc3\u8840\u7ba1\u7578\u5f62\uff08\u5982\u52a8\u8109\u7ba1\u672a\u95ed\uff09<br><\/li>\n\n\n\n<li>\u80a0\u9053\u65cb\u8f6c\u5f02\u5e38<br><\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p>NMLFS\u5448\u73b0\u51fa\u5e7f\u6cdb\u4e14\u591a\u6837\u7684\u4e34\u5e8a\u8868\u73b0\uff0c\u75c7\u72b6\u7684\u4e25\u91cd\u7a0b\u5ea6\u4ece\u8f7b\u5ea6\u5230\u91cd\u5ea6\u4e0d\u7b49\u3002\u6700\u8fd1\u7684\u75c5\u4f8b\u62a5\u544a\u6307\u51fa\uff0c\u6210\u4eba\u671f\u53ef\u80fd\u4f1a\u51fa\u73b0\u6e10\u8fdb\u6027\u808c\u8089\u75c5\uff08\u808c\u75c5\uff09\uff0c\u8868\u660eNMLFS\u7684\u8868\u73b0\u53ef\u80fd\u968f\u7740\u5e74\u9f84\u7684\u589e\u957f\u800c\u53d1\u751f\u53d8\u5316\u3002<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%97%85%E5%9B%A0%E4%B8%8E%E8%AF%8A%E6%96%AD%E6%96%B9%E6%B3%95\"><\/span><strong>\u75c5\u56e0\u4e0e\u8bca\u65ad\u65b9\u6cd5<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>NMLFS\u7684\u539f\u56e0\u662f\u7531\u4e8e\u7b2c8\u53f7\u67d3\u8272\u4f53\u957f\u81c2\uff088q\uff09\u7279\u5b9a\u533a\u57df\u7684\u5fae\u5c0f\u7f3a\u5931\u3002\u8be5\u7f3a\u5931\u5bfc\u81f4\u8be5\u533a\u57df\u591a\u4e2a\u57fa\u56e0\u7684\u4e27\u5931\uff0c\u4ece\u800c\u5f15\u53d1\u7279\u6709\u7684\u9762\u90e8\u5f02\u5e38\u3001\u53d1\u80b2\u969c\u788d\u548c\u5176\u4ed6\u5148\u5929\u6027\u5f02\u5e38\u3002<br><\/p>\n\n\n\n<div style=\"height:23px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"517\" height=\"500\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/chr8.png\" alt=\"chr8\" class=\"wp-image-89704\"\/><\/figure><\/div>\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%9F%93%E8%89%B2%E4%BD%93%E5%BC%82%E5%B8%B8%E8%8C%83%E5%9B%B4%E4%B8%8E%E5%85%B3%E9%94%AE%E5%8C%BA%E5%9F%9F\"><\/span><strong>\u67d3\u8272\u4f53\u5f02\u5e38\u8303\u56f4\u4e0e\u5173\u952e\u533a\u57df<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u7f3a\u5931\u7684\u5927\u5c0f\u6709\u6240\u4e0d\u540c\uff0c\u6700\u5c0f\u4e3a\u7ea61.6 Mb\uff0c\u6700\u5927\u53ef\u8fbe8.9 Mb\u3002\u901a\u8fc7\u5bf9\u8fd9\u4e9b\u7f3a\u5931\u7684\u6bd4\u8f83\uff0c\u786e\u5b9a\u4e86\u4e00\u4e2a\u5173\u952e\u533a\u57df\uff0c\u8ba4\u4e3aNMLFS\u7684\u53d1\u75c5\u4e0e\u8fd9\u4e00\u533a\u57df\u5bc6\u5207\u76f8\u5173\uff0c\u8303\u56f4\u7ea6\u4e3a93.5 Mb\u81f396.3 Mb\uff08GRCh37\/hg19\u53c2\u8003\uff09\u3002\u8be5\u533a\u57df\u5305\u62ec<strong>TMEM67<\/strong>\u3001<strong>CCNE2<\/strong>\u3001<strong>GDF6<\/strong>\u3001<strong>ESRP1<\/strong>\u3001<strong>RAD54B<\/strong>\u7b49\u91cd\u8981\u57fa\u56e0\uff0c\u53ef\u80fd\u5728NMLFS\u7684\u53d1\u751f\u4e2d\u53d1\u6325\u4f5c\u7528\u3002\u7136\u800c\uff0c\u76f4\u63a5\u8bc1\u636e\u8868\u660e\u8fd9\u4e9b\u57fa\u56e0\u7684\u529f\u80fd\u4e27\u5931\u5355\u72ec\u5f15\u53d1NMLFS\u4ecd\u4e0d\u5145\u5206\uff0c\u4ecd\u5728\u8fdb\u884c\u8fdb\u4e00\u6b65\u7814\u7a76\u3002<br><\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%81%97%E4%BC%A0%E5%BD%A2%E5%BC%8F%E4%B8%8E%E9%81%97%E4%BC%A0%E8%83%8C%E6%99%AF\"><\/span><strong>\u9057\u4f20\u5f62\u5f0f\u4e0e\u9057\u4f20\u80cc\u666f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5927\u591a\u6570\u786e\u8bca\u7684NMLFS\u75c5\u4f8b\u6765\u81ea<strong>\u65b0\u751f\u7a81\u53d8\uff08de novo\uff09<\/strong>\uff0c\u5373\u6ca1\u6709\u4ece\u7236\u6bcd\u7ee7\u627f\u3002\u7136\u800c\uff0c\u5c11\u6570\u75c5\u4f8b\u663e\u793a\u7f3a\u5931\u53ef\u4ee5\u9057\u4f20\uff0c\u8868\u660eNMLFS\u53ef\u80fd\u9075\u5faa<strong>\u5e38\u67d3\u8272\u4f53\u663e\u6027\u9057\u4f20<\/strong>\u7684\u6a21\u5f0f\uff0c\u4f34\u6709<strong>\u4e0d\u5b8c\u5168\u6e17\u900f\uff08incomplete penetrance\uff09\u548c\u53ef\u53d8\u8868\u73b0\uff08variable expressivity\uff09<\/strong>\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%AF%8A%E6%96%AD%E6%96%B9%E6%B3%95\"><\/span><strong>\u8bca\u65ad\u65b9\u6cd5<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>NMLFS\u7684\u786e\u8bca\u9700\u8981\u8fdb\u884c\u9ad8\u5206\u8fa8\u7387\u7684\u67d3\u8272\u4f53\u7ed3\u6784\u5f02\u5e38\u68c0\u6d4b\u3002\u5e38\u7528\u7684\u8bca\u65ad\u65b9\u6cd5\u5305\u62ec\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6bd4\u8f83\u57fa\u56e0\u7ec4\u6742\u4ea4\uff08array-CGH\uff09<\/strong>\uff1a\u5168\u9762\u68c0\u6d4b\u5fae\u5c0f\u7f3a\u5931\u3002<br><\/li>\n\n\n\n<li><strong>FISH\uff08\u8367\u5149\u539f\u4f4d\u6742\u4ea4\uff09<\/strong>\uff1a\u9ad8\u7cbe\u5ea6\u5b9a\u4f4d\u7279\u5b9a\u533a\u57df\u7684\u7f3a\u5931\uff0c\u5e2e\u52a9\u68c0\u6d4b\u5d4c\u5408\u4f53\u75c5\u4f8b\u3002<br><\/li>\n\n\n\n<li><strong>\u67d3\u8272\u4f53\u5fae\u9635\u5217\uff08CMA\uff09<\/strong>\uff1a\u7c7b\u4f3c\u4e8earray-CGH\uff0c\u5e7f\u6cdb\u5e94\u7528\u4e8e\u4e34\u5e8a\u3002<br><\/li>\n\n\n\n<li><strong>\u5168\u5916\u663e\u5b50\u7ec4\u6d4b\u5e8f\uff08WES\uff09<\/strong>\uff1a\u7528\u4e8e\u68c0\u6d4b\u5e8f\u5217\u7a81\u53d8\u548c\u62f7\u8d1d\u6570\u53d8\u5f02\uff08CNV\uff09\uff0c\u7279\u522b\u9002\u7528\u4e8e\u8868\u73b0\u578b\u591a\u6837\u6027\u7684\u75be\u75c5\uff0c\u5982NMLFS\u3002<br><\/li>\n<\/ul>\n\n\n\n<p>**\u65e0\u521b\u4ea7\u524d\u8bca\u65ad\uff08<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a>\uff09**\u4e5f\u9010\u6e10\u6210\u4e3a\u7b5b\u67e5\u5fae\u5c0f\u7f3a\u5931\u7efc\u5408\u75c7\u7684\u624b\u6bb5\uff0c\u901a\u8fc7\u5206\u6790\u6bcd\u4f53\u8840\u6db2\u4e2d\u7684\u80ce\u513fDNA\uff0c\u53ef\u4ee5\u9ad8\u7cbe\u5ea6\u3001\u5b89\u5168\u5730\u68c0\u6d4b\u67d3\u8272\u4f53\u5f02\u5e38\u3002NIPT\u4e0e\u7f8a\u6c34\u68c0\u67e5\u548c\u7ed2\u6bdb\u53d6\u6837\u76f8\u6bd4\uff0c\u98ce\u9669\u8f83\u4f4e\uff0c\u662f\u5b55\u5987\u7684\u7406\u60f3\u9009\u62e9\u4e4b\u4e00\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%9C%AA%E6%9D%A5%E7%9A%84%E7%A0%94%E7%A9%B6%E4%B8%8E%E7%97%85%E5%9B%A0%E8%A7%A3%E6%9E%90\"><\/span><strong>\u672a\u6765\u7684\u7814\u7a76\u4e0e\u75c5\u56e0\u89e3\u6790<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u7531\u4e8eNMLFS\u62a5\u544a\u7684\u75c5\u4f8b\u6781\u4e3a\u6709\u9650\uff0c\u8fdb\u4e00\u6b65\u79ef\u7d2f\u75c5\u4f8b\u5bf9\u63ed\u793a\u75c5\u56e0\u57fa\u56e0\u548c\u53d1\u75c5\u673a\u5236\u81f3\u5173\u91cd\u8981\u3002\u901a\u8fc7\u5bf9\u5c0f\u89c4\u6a21\u7f3a\u5931\uff08\u5c0f\u4e8e2 Mb\uff09\u548c\u57fa\u56e0\u7ec4\u5206\u6790\uff0c\u53ef\u4ee5\u9a8c\u8bc1\u65b0\u7684\u75be\u75c5\u5047\u8bbe\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%97%87%E7%8A%B6%E4%B8%8E%E7%AE%A1%E7%90%86\"><\/span><strong>\u75c7\u72b6\u4e0e\u7ba1\u7406<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p><strong>\u4e3b\u8981\u75c7\u72b6\uff08\u9762\u90e8\u7279\u5f81\uff09<\/strong>\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u72ed\u5c0f\u7684\u773c\u88c2\uff08blepharophimosis\uff09<br><\/li>\n\n\n\n<li>\u7d27\u7ef7\u4e14\u6709\u5149\u6cfd\u7684\u9762\u90e8\u76ae\u80a4<br><\/li>\n\n\n\n<li>\u5f2f\u66f2\u7684\u7a00\u758f\u7709\u6bdb<br><\/li>\n\n\n\n<li>\u6241\u5e73\u4e14\u5bbd\u7684\u9f3b\u6881\uff0c\u5706\u5f62\u9f3b\u5c16<br><\/li>\n\n\n\n<li>\u5c0f\u4e0b\u5df4\u548c\u4e0a\u988c\u4f4e\u53d1\u80b2<br><\/li>\n\n\n\n<li>\u53cc\u4fa7\u9762\u988a\u51f9\u9677\uff08bilateral cheek dimples\uff09<br><\/li>\n\n\n\n<li>\u8033\u6735\u5f62\u72b6\u5f02\u5e38<br><\/li>\n\n\n\n<li>\u524d\u989d\u53d1\u578b\u5f02\u5e38<br><\/li>\n<\/ul>\n\n\n\n<p><strong>\u8eab\u4f53\u53ca\u53d1\u80b2\u7279\u5f81<\/strong>\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u53d1\u5c55\u6027\u5ef6\u8fdf\uff08\u8fd0\u52a8\u548c\u8bed\u8a00\u5ef6\u8fdf\uff09<br><\/li>\n\n\n\n<li>\u4f4e\u808c\u5f20\u529b\uff08hypotonia\uff09<br><\/li>\n\n\n\n<li>\u5173\u8282\u631b\u7f29\u3001\u5f2f\u66f2\u6307\u75c7\uff08camptodactyly\uff09<br><\/li>\n\n\n\n<li>\u9690\u777e\u75c7\u3001\u5c0f\u9634\u830e<br><\/li>\n\n\n\n<li>\u5507\u816d\u88c2\u3001\u7259\u9f7f\u5f02\u5e38<br><\/li>\n\n\n\n<li>\u611f\u97f3\u6027\u542c\u529b\u4e27\u5931\u3001\u5589\u8f6f\u5316\u75c7<br><\/li>\n\n\n\n<li>\u5176\u4ed6\uff1a\u8110\u759d\u3001\u5fc3\u8840\u7ba1\u7578\u5f62\u7b49<br><\/li>\n<\/ul>\n\n\n\n<p><strong>\u7ba1\u7406\u65b9\u6cd5<\/strong>\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u5c0f\u513f\u795e\u7ecf\u79d1\u3001\u9057\u4f20\u5b66\u4e13\u5bb6\u7ba1\u7406<br><\/li>\n\n\n\n<li>\u53d1\u80b2\u652f\u6301\u3001\u7269\u7406\u6cbb\u7597\u3001\u8bed\u8a00\u6cbb\u7597\u3001\u884c\u4e3a\u6cbb\u7597<br><\/li>\n\n\n\n<li>\u5916\u79d1\u5e72\u9884\uff08\u9690\u777e\u75c7\u3001\u5173\u8282\u631b\u7f29\u3001\u816d\u88c2\u7b49\uff09<br><\/li>\n\n\n\n<li>\u5b9a\u671f\u5fc3\u810f\u8d85\u58f0\u3001\u808c\u7535\u56fe\u3001\u6210\u957f\u8bc4\u4f30<br><\/li>\n\n\n\n<li>\u5fc3\u7406\u793e\u4f1a\u652f\u6301\uff08\u60c5\u611f\u62a4\u7406\uff09<br><\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%9C%AA%E6%9D%A5%E5%B1%95%E6%9C%9B\"><\/span><strong>\u672a\u6765\u5c55\u671b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>NMLFS\u7684\u9884\u540e\u56e0\u75c7\u72b6\u7684\u4e25\u91cd\u7a0b\u5ea6\u800c\u5f02\u3002\u8bb8\u591a\u60a3\u8005\u53ef\u4ee5\u901a\u8fc7\u9002\u5f53\u7684\u6cbb\u7597\u548c\u62a4\u7406\u8fc7\u4e0a\u8f83\u597d\u7684\u751f\u6d3b\u3002\u75be\u75c5\u7684\u8bca\u65ad\u548c\u6cbb\u7597\u9700\u8981\u8de8\u5b66\u79d1\u7684\u4e13\u4e1a\u56e2\u961f\u5408\u4f5c\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\/2024\/11\/24156031_s.jpg\" alt=\"\u5b50\u3069\u3082\u3092\u611b\u3055\u306a\u3044\u3068\" class=\"wp-image-87708\"\/><\/figure><\/div>\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%8F%82%E8%80%83%E6%96%87%E7%8C%AE\"><\/span><strong>\u53c2\u8003\u6587\u732e<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Mitrakos, A., Kekou, K., Tilemis, F.-N., et al. (2024). Nablus mask-like facial syndrome: Report of an atypical case with 8q21.3\u2013q22.1 deletion. <em>American Journal of Medical Genetics Part A<\/em>, 194(12), e63826.<a href=\"https:\/\/doi.org\/10.1002\/ajmg.a.63826\"> https:\/\/doi.org\/10.1002\/ajmg.a.63826<br><\/a><\/li>\n<\/ul>\n\n\n\n<p>Allanson, J., et al. (2012). Nablus mask-like facial syndrome: Deletion of chromosome 8q22.1 is necessary but not sufficient to cause the phenotype. <em>American Journal of Medical Genetics Part A<\/em>, 158A(9), 2091\u20132099.<a href=\"https:\/\/doi.org\/10.1002\/ajmg.a.35446\"> https:\/\/doi.org\/10.1002\/ajmg.a.35446<\/a><\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n","protected":false},"excerpt":{"rendered":"\u3053\u306e\u8a18\u4e8b\u306e\u307e\u3068\u3081 \u7eb3\u5e03\u5362\u65af\u9762\u5177\u6837\u9762\u5bb9\u7efc\u5408&#8230;\n <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nablus-mask-like-facial-syndrome-overview\/?lang=zh-hans\">\u7d9a\u304d\u3092\u8aad\u3080<\/a>","protected":false},"author":79,"featured_media":0,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[14],"tags":[],"class_list":["post-111927","post","type-post","status-publish","format-standard","hentry","category-other-zh-hans"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/111927","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\/79"}],"replies":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/comments?post=111927"}],"version-history":[{"count":2,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/111927\/revisions"}],"predecessor-version":[{"id":111931,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/111927\/revisions\/111931"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=111927"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=111927"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=111927"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}