¹ü·ÏÅý¼À´µ¤ÎÏÂÌõÉÂ̾¤Ë¤Ä¤¤¤Æ
¹ü·ÏÅý¼À´µ¤ÎÏÂÌõÉÂ̾¤Ë¤Ä¤¤¤Æ
¡¡¡¡¡¡¡¡¡¡¡¡¡¡¡¡¡¡¡¡¡¡¡¡¡¡¡¡¡¡¡¡¡¡¡¡¡¡¡¡¡¡¡¡¡¡¡¡¡¡¡¡¡¡¡¡¡¡¡¡¡¡¡¡¡¡¡Ê¼¼·î ½ß¡¡2018ǯ5·î27Æü¡Ë
2013ǯ4·î17ÆüÆÉÇäÄ«´©¡¥¡Ö¥¿¥Ê¥È¥Õ¥©¥ê¥Ã¥¯¹ü°Û·ÁÀ®¾É¡×¤Ø¤ÎÉÂ̾Êѹ¹¤¬Ê󤸤é¤ì¤¿¡¥
1. ¤Ï¤¸¤á¤Ë
¹ü·ÏÅý¼À´µ¤Ë¤Ï¿ô¿¤¯¤Î¼À´µ¤¬´Þ¤Þ¤ì¡¤¤½¤Îɽ¸½·¿¤ä¸¶°ø°äÅÁ»Ò¤Ï¿ÍͤǤ¢¤ë¡¥¤³¤ì¤é¿¤¯¤Î¼À´µ¤òÀ°Íý¤·Ê¬Îह¤ëÌÜŪ¤Ç¡¤ÀìÌç²È¤¬Æ¤µÄ¤·¤Æ1971ǯ¤Ë¤Ï¤¸¤á¤Æ¹ñºÝʬÎबȯɽ¤µ¤ì¤¿(1)¡¥¤½¤Î¸å¿ôǯ¤ª¤¤Ë¹ñºÝʬÎब²þÄû¤µ¤ì¡¤Á°²ó¤Î2010ǯ¤Î¹ñºÝʬÎà(2)¤Ç¤Ï40¥°¥ë¡¼¥×456¼À´µ¤Ç¤¢¤Ã¤¿¤Î¤Ë¤¿¤¤¤·¡¤º£²ó¤Î2015ǯÈǹñºÝʬÎà(3)¤Ë¤Ï42¥°¥ë¡¼¥×436¼À´µ¤¬¤ª¤µ¤á¤é¤ì¤Æ¤ª¤ê¡¤2010ǯÈǤÎ40¥°¥ë¡¼¥×456¼À´µ¤è¤ê¼ã´³¤Î¸º¾¯¤òÀ¸¤¸¤Æ¤¤¤ë¡¥¿·µ¬¤Î¼À´µ¤¬²Ã¤¨¤é¤ì¤¿¤¬¡¤Æ±»þ¤Ëɽ¸½·¿¤«¤é¶èÊ̤ΤĤ«¤Ê¤¤¼À´µ·²¤òñ°ì¥°¥ë¡¼¥×¤Ë½¸Ìó¤·¤¿¤¿¤á¤ËÁí¼À´µ¿ô¤Ï¸º¾¯¤·¤¿¤¿¤á¤Ç¤¢¤ë¡¥
ÆüËÜÀ°·Á³°²Ê³Ø²ñ¹ü·ÏÅý¼À´µ°Ñ°÷²ñ¤Ç¤Ï1983ǯÈǤιñºÝʬÎफ¤éÏÂÌõºî¶È¤ò¤Ä¤Å¤±¡¤¤½¤Î¤Ä¤ÉÆüËÜÀ°·Á³°²Ê³Ø²ñ»ï¤Ë¸øɽ¤·¤Æ¤¤¿¡¥2010ǯÈǤιñºÝʬÎफ¤é¤Ï¡¤ÆüËÜ»º²ÊÉؿͲʳزñ¤ª¤è¤ÓÆüËܾ®»ù²Ê³Ø²ñ¤«¤é¤½¤ì¤¾¤ì¿äÁ¦¤ò¼õ¤±¤¿°Ñ°÷¤¬¥ï¡¼¥¥ó¥°¥ë¡¼¥×¤Î¥á¥ó¥Ð¡¼¤Ë²Ã¤ï¤ê¡¤¹ü·ÏÅý¼À´µ¤ÎÏÂÌõºî¶È¤Ë¶¨ÎϤ¹¤ë¤³¤È¤Ë¤Ê¤Ã¤¿¡¥¤â¤È¤â¤È¹ü·ÏÅý¼À´µ¤Î¿ÇÎŤˤÏÀ°·Á³°²Ê°Ê³°¤Ë¤â»º²Ê¡¤¾®»ù²Ê¡¤Êü¼ÍÀþ²Ê¤Ê¤É¤µ¤Þ¤¶¤Þ¤Ê¿ÇÎŲʤ¬¤¿¤º¤µ¤ï¤Ã¤Æ¤ª¤ê¡¤¤½¤ì¤¾¤ì¤ÎʬÌî¤Ç°Û¤Ê¤ë³µÇ°¤ä̾¾Î¤¬¤Ä¤«¤ï¤ì¤ë¤³¤È¤¬¤¢¤Ã¤¿¡¥¤½¤³¤Ç³ÆʬÌ¤é¤Î°Õ¸«¤ò½¸Ìó¤·¡¤¹ü·ÏÅý¼À´µ¤ÎÅý°ì¤·¤¿Ì¾¾Î¤ò¿ÇÎŤ並µæ¤ËÍøÍѤ·¤Æ¤¤¤¯¤³¤È¤òÌÜɸ¤È¤·¤¿¤â¤Î¤Ç¤¢¤ë¡¥
¤ï¤¿¤·¤Ï2010ǯÈÇ¡¤2015ǯÈǤιñºÝʬÎàÏÂÌõ¥ï¡¼¥¥ó¥°¥°¥ë¡¼¥×¤Ë¡¤ÆüËÜ»º²ÊÉؿͲʳزñ¿äÁ¦¤Î¥á¥ó¥Ð¡¼¤È¤·¤Æ²Ã¤ï¤ê¡¤ÏÂÌõ¤Ë¤Ä¤¤¤Æ¤ÎµÄÏÀ¤äºî¶È¤Ë¤¿¤º¤µ¤ï¤ë·Ð¸³¤òÆÀ¤¿¡¥¤³¤³¤Ç¿·¤·¤¤ÆüËܸìÉÂ̾¤¬·è¤Þ¤Ã¤¿ÆâÍƤȤ½¤Î·Ð°Þ¤Ë¤Ä¤¤¤ÆÊó¹ð¤·¤¿¤¤¡¥
¡¡
2. »º²Ê¤ÎΩ¾ì¤«¤é¤ß¤¿ÏÂÌõÉÂ̾¤ÎÊѹ¹ÅÀ
ºî¶È¤Ï°Ê²¼¤Î´ðËÜÊý¿Ë¤Ë´ð¤Å¤¤¤Æ¹Ô¤ï¤ì¤¿¡¥¤¹¤Ê¤ï¤ÁÁ°²ó¡Ê2010ǯ¡ËʬÎà¤ÎÏÂÌõÊý¿Ë¤ò³Îǧ¤·¡¤´ðËÜŪ¤Ë¤½¤ì¤òƧ½±¤·¤Æ¤¤¤¯¤³¤È¡¥¤Þ¤¿Ä¾Ìõ¤ò¸¶Â§¤È¤¹¤ë¤³¤È¡¤½¾Íè¤ÎÏÂÌõÉÂ̾¤ò»²¹Í¤È¤¹¤ë¤³¤È¤Ê¤É¤Ç¤¢¤ë¡¥¹ñºÝʬÎà¤Ë¿·µ¬¤ËÄɲ䵤줿¼À´µÌ¾¤Ë¤Ä¤¤¤Æ¤Ï¤¢¤é¤¿¤ËÏÂÌõºî¶È¤ò¤ª¤³¤Ê¤Ã¤¿¡¥¤¿¤À¤·¶áǯ¤ÎÉÂ̾¸Æ¾Î¤Î¹Í¤¨¤«¤¿¤Ë¤½¤Ã¤Æ¡¤malformation¤ò¡Ö´ñ·Á¡×¤Ç¤Ï¤Ê¤¯¡Ö·ÁÂÖ°Û¾ï¡×¡¤anomaly¤ò¡Ö´ñ·Á¡×¤Ç¤Ï¤Ê¤¯¡Ö°Û¾ï¡×¤ÈÌõ¤¹¤³¤È¤¬³Îǧ¤µ¤ì¤¿¡¥
ƱÍͤ˽¾Íè¤ÎÈǤˤª¤±¤ë¹ü·ÏÅý¼À´µ¤ÎÆüËܸìÉÂ̾¤Î¤Ê¤«¤Ç¡¤»º²Ê¤ª¤è¤Ó¿·À¸»ù²Ê¤Î¿ÇΟ½¾ì¤Ë¤ª¤¤¤ÆÎ×¾²¾å¤ËÌäÂê¤ò¤ª¤³¤·¤¿¤ê¡¤°å»Õ´Ö¤¢¤ë¤¤¤Ï°å»Õ´µ¼Ô´Ö¤Ç¥³¥ß¥å¥Ë¥±¡¼¥·¥ç¥ó¤Ëóòó÷¤ò¤¤¿¤·¤Æ¤¤¤ë¤â¤Î¤¬¤¢¤ë¤³¤È¤¬Ä󵯤µ¤ì¡¤¥ï¡¼¥¥ó¥°¥°¥ë¡¼¥×¤Î¤Ê¤«¤Ç¤¸¤å¤¦¤Ö¤ó¤ÊƤµÄ¤ò¤ª¤³¤Ê¤Ã¤Æ¡¤ÉÂ̾¤Ë¤Ä¤¤¤ÆŬÀڤʤ¤¤¤¤«¤¨¤¬²Äǽ¤Ç¤¢¤ì¤Ð¤½¤ì¤òÀµ¼°ÉÂ̾¤ËºÎÍѤȤ¹¤ë¤³¤È¤Ë¤·¤¿¡¥
2010ǯÈǤǤΤª¤â¤ÊÊѹ¹ÅÀ(4)
»º²Ê¦¤«¤é¡Éthanatophoric dysplasia¡É¡ÖÃ×»àÀ¹ü°Û·ÁÀ®¾É¡×¤Î̾¾Î¤Ë¤Ä¤¤¤ÆÌäÂêÄ󵯤ò¤ª¤³¤Ê¤Ã¤¿¡¥¡ÖÃ×»àÀ¹ü°Û·ÁÀ®¾É¡×¤Ë¤Ä¤¤¤Æ¤Ï¡¤¸üÀ¸Ï«Æ¯¾Êß·°æÈɤ¬2011ǯ¤Ëȯɽ¤·¤¿Á´¹ñÄ´ºº¤Ç1ǯ°Ê¾å¤ÎÀ¸Â¸Î¨¤¬3³ä°Ê¾å¤¢¤Ã¤¿¤Û¤«¡¤20ǯ°Ê¾å¤ÎÀ¸Â¸Îã¤âȽÌÀ¤·¤Æ¤¤¤ë¡¥»º²Ê°å¿·À¸»ù²Ê°å¤äɵ¤¤Î»Ò¤ò¤â¤Äξ¿Æ¤Ø¤Î¥¢¥ó¥±¡¼¥ÈÄ´ºº¤Ç¤Ï¡¤¿ÇÎŤθ½¾ì¤Ë¤ª¤¤¤ÆÉÂ̾¹ðÃθå¤Îξ¿Æ¤Î»ù¤Î¼õÍƤ˱ƶÁ¤òµÚ¤Ü¤¹²ÄǽÀ¤¬»ØŦ¤µ¤ì¡¤ÉÂ̾Êѹ¹¤òµá¤á¤ëÀ¼¤¬Â¿¿ô¤è¤»¤é¤ì¤Æ¤¤¤¿¡¥¤¿¤·¤«¤Ë¡Éthanatophoric¡É¤Ï¡ÖÃ×»àÀ¡×¤È¤¤¤¦°ÕÌ£¤ò¤â¤Ä¤¬¡¤¤â¤È¤â¤È¸ÅÂ奮¥ê¥·¥ã¸ìͳÍè¤Î°å³ØÀìÌç¸ì¤Ç¤¢¤ë¡¥²¤ÊƤǤϰìÈ̤ˤϸÇÍ̾»ì¤Î¤è¤¦¤Ë¤È¤é¤¨¤é¤ì¤Æ¤¤¤Æ¡¤ÆüËܸìÉÂ̾¤Î¤ß¤½¤Î¸¶°Õ¤ò¸·Ì©¤ËÌõ¤µ¤ì¤Æ¤¤¤ë¤È¤¤¤¦¸½¾õ¤¬¤¢¤ë¡¥¤½¤³¤Ç¡Éthanatophoric dysplasia¡É¤ÎÏÂÌõÉÂ̾¤¬¡¤¡ÖÃ×»àÀ¹ü°Û·ÁÀ®¾É¡×¤«¤é¡Ö¥¿¥Ê¥È¥Õ¥©¥ê¥Ã¥¯¹ü°Û·ÁÀ®¾É¡×¤ËÊѹ¹¤µ¤ì¤ë¤³¤È¤Ë¤Ê¤Ã¤¿¡¥
ƱÍͤˡÉasphyxiating thoracic dysplasia¡É¤Ë¤Ä¤¤¤Æ¤³¤ì¤Þ¤Ç¡ÖÃâ©À¶»³Ô°Û·ÁÀ®¾É¡×¤ÈÌõ¤µ¤ì¤Æ¤¤¿¤¬¡¤¤³¤Î¡ÖÃâ©À¡×¤È¤¤¤¦¤Î¤¬°å»Õ¤ä²È²¤Ë¤È¤Ã¤Æ¤«¤Ê¤ê¤¤Ó¤·¤¤¸ì´¶¤òÍ¿¤¨¤ë¤³¤È¤â»ØŦ¤µ¤ì¤¿¡¥¡ÉAsphyxiating¡É¤ÎÊ£¿ô¤ÎÌõ¸ì¤ò¸¡Æ¤¤·¤¿·ë²Ì¡¤¤³¤³¤Ç¤Ï¡Ö¸ÆµÛÉÔÁ´À¶»³Ô°Û·ÁÀ®¾É¡×¤È¤¤¤¦Ì¾¾Î¤¬ºÎÍѤµ¤ì¤ë¤³¤È¤Ë¤Ê¤Ã¤¿¡¥
2015ǯÈǤǤΤª¤â¤ÊÊѹ¹ÅÀ(5)
2010ǯÈǤÎÏÂÌõºî¶È¤Ç¡Éthanatophoric¡É¡ÖÃ×»àÀ¡×¤Î¸ì¤¬¸¡Æ¤¤µ¤ì¤¿¤È¤¡¤¡Éhypophosphatasia perinatal lethal type¡É¤Ë¤ª¤±¤ë¡Élethal¡É¤ÎÌõ¸ì¤Ë¤Ä¤¤¤Æ¤âƱÍͤ˵ÄÏÀ¤ÎÐÙ¾å¤Ë¤¢¤¬¤Ã¤¿¡¥¤·¤«¤·¡Élethal¡É¤È¤¤¤¦¸ì¤Ï¹ñºÝʬÎà¤Î¤Û¤«¤Î¤È¤³¤í¤Ë¤âÊ£¿ô»ÈÍѤµ¤ì¤Æ¤¤¤ë¤³¤È¡¤hypophosphatasia¤ÎÃ諤¬¸½ºß¤É¤ó¤É¤óÁý¤¨¤Æ¤¤¤ë¤³¤È¤«¤é2010ǯÈǤǤÏÊÝα¤È¤·¡¤¼¡²ó²þÄû¤Î¤È¤¤Ë·ëÏÀ¤ò¤À¤¹¤³¤È¤Ë¤Ê¤Ã¤¿¡¥
2015ǯÈǤ¬¤Ç¤¿»þÅÀ¤Ç¤Ï¡¤hypophosphatasia¤Ë¤¿¤¤¤¹¤ë¹ÚÁÇÊä½¼ÎÅË¡À½ºÞ¤¬¼ÂÍѲ½¤µ¤ì¤Æ¤½¤Îͽ¸å¤¬·àŪ¤Ë²þÁ±¤·¤Æ¤ª¤ê¡¤¡Élethal¡É¤òɬ¤º¤·¤â¡ÖÃ×»àÀ¡×¤È¤è¤Ù¤Ê¤¯¤Ê¤Ã¤Æ¤¤¤ë¸½¾õ¤¬³Îǧ¤µ¤ì¤¿¡¥¡ÖÃ×»àÀ¡×¤È¤¤¤¦Ì¾¾Î¤Ï¤Û¤«¤Î¼À´µ¤Ç¤â»¶¸«¤µ¤ì¡¤»º²ÊŪ¡¤¿·À¸»ù²ÊŪ¤Ë¤ÏÉÂ̾¹ðÃθå¤Îξ¿Æ¤Î»ù¤Î¼õÍƤ˱ƶÁ¤òµÚ¤Ü¤¹²ÄǽÀ¤¬¤¢¤ë¤³¤È¤¬¤¢¤ï¤»¤Æ»ØŦ¤µ¤ì¤¿¡¥¤³¤ì¤ò¤Õ¤Þ¤¨¤Æ¡¤É½¸½¤Î°ì´ÓÀ¤â¹Íθ¤·¤Æ¡Élethal¡É¤È¤¤¤¦±Ñ¸ìɽ¸½¤ò¡Ö½Å¾É¡×¤ÈËÝÌõ¤·¡¤ÌõÃí¤òÄɲ乤ëÊý¿Ë¤È¤Ê¤Ã¤¿¡¥¤³¤Î·ë²Ì¡¤Æ±É½¸½¤¬ÍѤ¤¤é¤ì¤Æ¤¤¤ë7¤«½ê¤Ë¤Ä¤¤¤Æ¡Ö½Å¾É¡×¤ÈËÝÌõ¤·¤¿¡¥
¤Þ¤¿¡ÈHypophosphatasia¡É¤ÎÆüËܸìɽµ¤Ë¤Ä¤¡¤¡ÖÀ°·Á³°²Ê³ØÍѸ콸¡×¡Ê¥Õ¥©¥¹¥Õ¥¡¥¿¡¼¥¼¡Ë¤È¡ÖÆüËÜ°å³Ø²ñ°å³ØÍѸ콸¡×¡Ö¾®»ù²ÊÍѸ콸¡×¡Ö»º²ÊÉؿͲÊÍѸ콸¡¦ÍѸì²òÀ⽸¡×¡Ê¥Û¥¹¥Õ¥¡¥¿¡¼¥¼¾É¡Ë¤ËÁê°ã¤¬¤¢¤ë¤³¤È¤¬È½ÌÀ¤·¤¿¡¥¥ï¡¼¥¥ó¥°¥°¥ë¡¼¥×Æâ¤Ç¤ÏÆüËÜ°å³Ø²ñÍѸ콸¤Îɽµ¤ËÅý°ì¤¹¤Ù¤°Õ¸«¤Ç¡¤ÆüËÜÀ°·Á³°²Ê³Ø²ñ¤Îλ¾µ¤òÆÀ¤¿¤¦¤¨¤Ç¡¤¡Éphosphatase¡É¤ò¡Ö¥Û¥¹¥Õ¥¡¥¿¡¼¥¼¡×¤ÈÏÂÌõ¤·¤¿¡¥
¡¡
3. ¹Í»¡
ÉÂ̾¤È¤¤¤¦¤Î¤Ï¤È¤¤Ë¹ÔÀ¯¤äÊóÆ»¤Ç¤âÍѤ¤¤é¤ì¤ë¤³¤È¤¬¤¢¤ê¡¤°å³ØÍѸì¤Î¤Ê¤«¤Ç¤â¤³¤È¤Ë½ÅÍ×À¤¬¹â¤¤¤È¤¤¤¨¤ë¡¥°å³ØŪ¤ÊÀµ³Î¤µ¤À¤±¤Ç¤Ê¤¯¡¤¼Ò²ñ¤ä¶µ°é¸½¾ì¤Ê¤É¤Ç¸í²ò¤äÊ諤òÀ¸¤¸¤Ê¤¤¤È¤¤¤Ã¤¿ÇÛθ¤¬É¬ÍפǤ¢¤ë¡¥¹¬¤¤¤Ë¤â¹ü·ÏÅý¼À´µ¤ÎÌäÂê¤Ë»º²Ê°å¤ÎΩ¾ì¤«¤é¤Ê¤¬¤é¤¯¼è¤ê¤¯¤ó¤Ç¤¤¿¡ÖÂÛ»ù¹ü·ÏÅý¼À´µ¥Õ¥©¡¼¥é¥à¡×¤Î³èÆ°¤¬É¾²Á¤µ¤ì¤¿¤»¤¤¤«¡¤ÆüËÜ»º²ÊÉؿͲʳزñ¤«¤é¤Î¿äÁ¦¡¤ÆüËÜÀ°·Á³°²Ê³Ø²ñ¥ï¡¼¥¥ó¥°¥°¥ë¡¼¥×¤Ø¤Î¼õ¤±¤¤¤ì¤Ë²Ã¤¨¡¤¤ï¤ì¤ï¤ì¤«¤é¤ÎÌäÂêÄ󵯤ˤ⿿ÀµÌ̤«¤éÂбþ¤·¤Æ¤¤¤¿¤À¤±¤¿¡¥
¤·¤«¤·¸¡Æ¤¤¹¤Ù¤²ÝÂê¤Ï»Ä¤µ¤ì¤Æ¤¤¤ë¡¥¿ôǯ¤ª¤¤Ë²þÄû¤µ¤ì¤ë¹ñºÝʬÎà¤Ëº£¸å¤â¤¢¤é¤¿¤ËÄɲ䵤ì¤ëɵ¤¤ÎÌõ¸ìÀ©Äê¤ÎÌäÂê¤Ç¤¢¤ë¡¥¤Þ¤¿Ìõ¸ì²þÄû¤Î¤È¤¤Ë³°Éô¤«¤é¤¦¤±¤¿ÈãȽ¤È¤·¤Æ¡¤¡Ö´µ»ù¤ä²È²¤¬Ä¾Ì̤·¤Æ¤¤¤ëº¤Æñ¤Ë¤¿¤¤¤·¤Æ¡¤ÉÂ̾¤ò¤«¤¨¤ë¤³¤È¤¬ËܼÁŪ¤Ê²ò·è¤Ë¤Ê¤ë¤Î¤«¡×¤È¤¤¤Ã¤¿¤â¤Î¤¬¤¢¤Ã¤¿¡¥
ºÇ½é¤ÎÌäÂê¤Ë¤¿¤¤¤·¤Æ¤Ï¡¤°ìÈÌŪ¤Ê¡ÖÌõ¸ìÁªÄê¤Î´ð½à¡×¤È¤¤¤¦¤â¤Î¤òº£¸å¤Ï¤¢¤¤é¤«¤Ë¤¹¤Ù¤¤Ç¤¢¤ë¡¥¤³¤ì¤Ï¹ü·ÏÅý¼À´µ¤Ë¤«¤®¤é¤º¤¹¤Ù¤Æ¤ÎÉÂ̾¤Ë¤Ä¤¤¤Æ¤¢¤Æ¤Ï¤Þ¤ë¤â¤Î¤Ç¤¢¤ë¡¥¤¿¤È¤¨¤Ð¡¤¡²Äǽ¤Ê¤«¤®¤ê±Ñ¸ì¤Î´Ê·é¤ÊľÌõ¤È¤¹¤ë¡¤¢¤³¤ì¤Þ¤Ç»È¤ï¤ì¤Æ¤¤¿ÆüËܸìÉÂ̾¤È¤Î°ÛƱ¤ä´Ø·¸À¤ò¤¢¤¤é¤«¤Ë¤¹¤ë¡¤£¤½¤Î¼À´µ¤ÎʬÎà¤ä̿̾¤ÎÍýÇ°¤òÈ¿±Ç¤¹¤ë¡¤¤¤½¤ÎÉÂ̾¤«¤é¾É¾õÆâÍƤò¤ª¤ª¤è¤½¿ä¬¤Ç¤¤ë¡¤¥´µ»ù¤ä²È²¤Ë¤¿¤¤¤¹¤ë¸í²ò¤äÊ諤ò½õŤ·¤Ê¤¤¡¤¤È¤¤¤Ã¤¿´ð½à¤¬¤¢¤²¤é¤ì¤ë¤À¤í¤¦¡¥¤â¤Á¤í¤ó¼À´µ¤Ë¤è¤Ã¤ÆÍ¥Àè½ç°Ì¤Ï¤«¤ï¤Ã¤Æ¤¯¤ë¤¬¡¤¤¢¤é¤¿¤ËÆüËܸìÉÂ̾¤ò¤¤á¤ë¤È¤¤Ë»²¹Í¤È¤·¤Æ¤¤¤¤¿¤¤¡¥
¤Õ¤¿¤Ä¤á¤ÎÈãȽ¤Ë¤¿¤¤¤·¤Æ¤¤Á¤ó¤È¤ªÅú¤¨¤¹¤ë¤³¤È¤Ï¤à¤º¤«¤·¤¤¡¥¤¿¤À¤·¤³¤ì¤ÏÊ̤Τդ¿¤Ä¤ÎÌäÂê¤Ç¤Ï¤Ê¤¤¤À¤í¤¦¤«¡¥¸í²ò¤äÊи«¤Î¤ª¤½¤ì¤Î¤¢¤ëÉÂ̾¤òÊѹ¹¤¹¤ë¤³¤È¤Ï¡¤ÌäÂê²ò·è¤Ë¥×¥é¥¹¤Ë¤Ê¤ë¤³¤È¤Ï¤¢¤Ã¤Æ¤â¥Þ¥¤¥Ê¥¹¤Ë¤Ï¤Ê¤é¤Ê¤¤¤È»×¤ï¤ì¤ë¡¥¤µ¤é¤Ë°åÎżԤȤ·¤Æ¤Ç¤¤ë¤³¤È¤Ï¼À´µ¤Ë¿¿ÀµÌ̤«¤é¤È¤ê¤¯¤ß¡¤´µ»ù¤ä²È²¤Ë¤¿¤¤¤·¤Æ¿¿Ùõ¤Ë¤à¤¤¢¤¦¤³¤È¤Ç¤·¤«¤Ê¤¤¡¥ÉÂ̾¤òÊѹ¹¤¹¤ë¤À¤±¤ÇÀ§¤È¤¹¤ë¤Î¤Ç¤Ï¤Ê¤¤¤Î¤ÏÅöÁ³¤Ç¤¢¤ë¡¥
2010ǯÈÇ¡¤2015ǯÈǹñºÝʬÎà¤ÎÏÂÌõºî¶È¤ò¤È¤ª¤·¤Æ¡¤Åö½é¡¤»º²Ê¤ÎΩ¾ì¤«¤éÍ×˾¤·¤¿ÅÀ¤Ë¤Ä¤¤¤Æ¤Ï¤Û¤Ü¼Â¸½¤·¤¿¤³¤È¤Ë¤Ê¤ê¡¤¹ü·ÏÅý¼À´µÏÂÌõ¥×¥í¥¸¥§¥¯¥È¤Ï¤ï¤ì¤ï¤ì¤Ë¤È¤Ã¤ÆÈó¾ï¤ËÍ°ÕµÁ¤Êºî¶È¤À¤Ã¤¿¤ÈÁí³ç¤Ç¤¤ë¡¥¤³¤ÎÅÀ¤Ë¤Ä¤¤¤Æ¤ÏÅìµþÂç³Ø¥ê¥Ï¥Ó¥ê¥Æ¡¼¥·¥ç¥ó°å³Ø¹ÖºÂ¶µ¼ø¤Î˧²ì¿®É§ÀèÀ¸¤Ë¿´¤è¤ê´¶¼Õ¤â¤¦¤·¤¢¤²¤ë¡¥ÂÛ»ù¹ü·ÏÅý¼À´µ¥Õ¥©¡¼¥é¥à¤ä¸üÀ¸Ï«Æ¯¾Ê¸¦µæÈɤǵÄÏÀ¤·¤Æ¤¤¤¿ÆâÍƤò¡¤¤ï¤ì¤ï¤ì¡Êß·°æ±ÑÌÀ¡¤¼¼·î½ß¡Ë¤¬Ëܶ¿¤Î˧²ì¿®É§ÀèÀ¸¤Î¤È¤³¤í¤ËľÀܤª»Ç¤¤¤·¤ÆÍ×˾¤·¤¿¤È¤³¤í¡¤¤³¤³¤í¤è¤¯¤½¤Î°Õ¤òµâ¤ß¤È¤Ã¤Æ¤¤¤¿¤À¤¤¤¿¤Î¤¬¤½¤â¤½¤â¤¤Ã¤«¤±¤Ç¤¢¤Ã¤¿¡¥¹ü·ÏÅý¼À´µ¤Ï¾®»ùÀ°·Á³°²Ê¤ÎÀìÌç²È¤ÎÀèÀ¸¤¬¤¿¤¬ÀΤè¤ê¤È¤ê¤¯¤ó¤Ç¤¤¿Ê¬Ìî¤Ç¡¤ÉÂ̾¤Ò¤È¤Ä¤Ë¤È¤Ã¤Æ¤âŤ¤¤¢¤¤¤À¤ÎµÄÏÀ¤Ë¤è¤Ã¤ÆÄê¤á¤é¤ì¤Æ¤¤¿¤â¤Î¤Ç¤¢¤ê¡¤¤ï¤ì¤ï¤ì»º²Ê°å¤ÎÍ×˾¤Ë¤¿¤¤¤·¤ÆºÇÂç¸Â¤´ÇÛ褤¤¿¤À¤¤¤¿¤³¤È¤Ë²þ¤á¤Æ´¶¼Õ¿½¤·¾å¤²¤Þ¤¹¡¥
¡¡
4. ʸ¸¥
- (1) McKusick? VA, Scott CI: A nomenclature for constitutional disorders of bone. J Bone Joint Surg 1971;53A:978-986
- (2) Warman ML, Cormier-Daire V, et al: Nosology and classification of genetic skeletal disorders: 2010 revision. Am J Med Genet A 2011;155A:943-968
- (3) Bonafe L, Cormier-Daire V, et al: Nosology and classification of genetic skeletal disorders: 2015 revision. Am J Med Genet A 2015;167A:2869-2892
- (4) ˧²ì¿®É§¡¤Åª¾ì¹À²ð¡¤µ´Æ¬¹À»Ë¡¤ÂìÀî°ìÀ²¡¤ÅÄÃæ¹°Ç·¡¤À¾Â¼¸¼¡¤¼¼·î ½ß¡§2010ǯÈǹü·ÏÅý¼À´µ¹ñºÝʬÎà¤ÎÏÂÌõ¡¥ÆüÀ°²ñ»ï2013;87:587-623
- (5) ¾®ùõ·Ä²ð¡¤ËÌÌîÍøÉס¤µ´Æ¬¹À»Ë¡¤ÃæÅ繯À²¡¤ËÌÃ湬»Ò¡¤¼¼·î½ß¡¤À¾Â¼¸¼¡¤Ë§²ì¿®É§¡§2015ǯÈǹü·ÏÅý¼À´µ¹ñºÝʬÎà¤ÎÏÂÌõ¡¥ÆüÀ°²ñ»ï2017;91:462-505
--------------------------------------------------------------------
ÂÛ»ù¹ü·ÏÅý¼À´µ¥Õ¥©¡¼¥é¥à¥È¥Ã¥×¡¡¤Ë¤â¤É¤ë
¥«¥¦¥ó¥¿¡¡3772¡Ê2018ǯ5·î27Æü¤è¤ê¡Ë