{"id":21,"date":"2015-03-23T19:41:48","date_gmt":"2015-03-23T18:41:48","guid":{"rendered":"http:\/\/www.zivotsesyndromem.cz\/?page_id=21"},"modified":"2015-03-23T19:41:48","modified_gmt":"2015-03-23T18:41:48","slug":"goldenhar-syndrom","status":"publish","type":"page","link":"https:\/\/www.zivotsesyndromem.cz\/?page_id=21","title":{"rendered":"Goldenhar syndrom (GS)"},"content":{"rendered":"<p class=\"western\" style=\"text-align: justify;\" align=\"justify\"><a href=\"http:\/\/www.zivotsesyndromem.cz\/wp-content\/uploads\/2015\/03\/goldehar-01.jpg\"><img loading=\"lazy\" decoding=\"async\" class=\"size-medium wp-image-22 alignleft\" src=\"http:\/\/www.zivotsesyndromem.cz\/wp-content\/uploads\/2015\/03\/goldehar-01-225x300.jpg\" alt=\"goldehar-01\" width=\"225\" height=\"300\" \/><\/a><\/p>\n<p class=\"western\" style=\"text-align: justify; padding-left: 30px;\" align=\"justify\"><span style=\"font-size: medium;\">Goldenhar syndrom byl nazv\u00e1n podle \u0161v\u00fdcarsk\u00e9ho l\u00e9ka\u0159e <\/span><strong><span style=\"font-size: medium;\">Mauriceho Goldenhara<\/span><\/strong><span style=\"font-size: medium;\"> ve 20.stolet\u00ed\u00a0 (1952), kter\u00fd tento syndrom popsal. Krom\u011b tohoto n\u00e1zvu se m\u016f\u017eete setkat s n\u00e1zvy jako <\/span><strong><span style=\"font-size: medium;\">Hemifacialn\u00ed microsomie<\/span><\/strong><span style=\"font-size: medium;\"> (v p\u0159ekladu &#8222;men\u0161\u00ed strana tv\u00e1\u0159e&#8220;), d\u00e1le <\/span><strong><span style=\"font-size: medium;\">Oculo &#8211; auriculo &#8211; vertebralni dysplazie (OAV<\/span><\/strong><span style=\"font-size: medium;\">)<b>,<\/b><\/span><span style=\"font-size: medium;\"> kde je v\u010detn\u011b posti\u017een\u00ed oka a ucha zahrnuto i posti\u017een\u00ed p\u00e1te\u0159e. <\/span><\/p>\n<p class=\"western\" style=\"text-align: justify;\" align=\"justify\"><span style=\"font-size: medium;\">Goldenhar syndrom m\u016f\u017ee b\u00fdt mnohem slo\u017eit\u011bj\u0161\u00ed verzi OAV, zat\u00edmco hemifacial microsomia m\u016f\u017ee b\u00fdt m\u00edrn\u011bj\u0161\u00ed verzi.<\/span><\/p>\n<p class=\"western\" style=\"text-align: justify;\" align=\"justify\"><span style=\"font-size: medium;\">Jedn\u00e1 se podobn\u011b jako u TCS, o <strong>autozom\u00e1ln\u00ed genetick\u00e9 posti\u017een\u00ed<\/strong>,\u00a0kter\u00e9 je podm\u00edn\u011bno <strong>obli\u010dejovou asymetrii<\/strong>, kdy je posti\u017eena zpravidla jen jedna polovina obli\u010deje. \u00a0Ale u 10-33%\u00a0 pacient\u016f jsou posti\u017eeny ob\u011b poloviny obli\u010deje, jedna je v\u0161ak posti\u017eena v\u00edce. <\/span><strong><span style=\"font-size: medium;\">Diagn\u00f3za<\/span><\/strong><span style=\"font-size: medium;\"> se p\u00ed\u0161e pod k\u00f3dem <\/span><strong><span style=\"font-size: medium;\">Q 87.0<\/span><\/strong><\/p>\n<p class=\"western\" style=\"text-align: justify;\" align=\"justify\"><strong><span style=\"font-size: medium;\">Symptomy<\/span><\/strong><\/p>\n<p class=\"western\" style=\"text-align: justify;\" align=\"justify\">\u00a0\u00a0 \u00a0 <span style=\"font-size: medium;\">Podobn\u011b jako u TCS doch\u00e1z\u00ed k <\/span><strong><span style=\"font-size: medium;\">ze\u0161ikmen\u00ed o\u010d\u00ed<\/span><\/strong><span style=\"font-size: medium;\">, z toho 35% trp\u00edc\u00edch maj\u00ed <\/span><strong><span style=\"font-size: medium;\">cystu na oku<\/span><\/strong><span style=\"font-size: medium;\">, tzv. <\/span><span style=\"font-size: medium;\"><i>dermoid<\/i><\/span><span style=\"font-size: medium;\"> (nepo\u0161kozuje zrak) nebo <\/span><span style=\"font-size: medium;\"><i>coloboma <\/i><\/span><span style=\"font-size: medium;\">(roz\u0161t\u011bp nebo vada zav\u00edr\u00e1n\u00ed oka) a i poruchy vid\u011bn\u00ed a\u017e slepota. D\u00e1le <\/span><strong><span style=\"font-size: medium;\">roz\u0161t\u011bp patra<\/span><\/strong><span style=\"font-size: medium;\"> (m\u00e9n\u011b \u010dasto roz\u0161t\u011bp rtu, \u010delisti a jej\u00ed kombinace). Proto maj\u00ed i <\/span><strong><span style=\"font-size: medium;\">probl\u00e9my s \u0159e\u010d\u00ed.<\/span><\/strong><span style=\"font-size: medium;\"> \u010cast\u00e1 je <\/span><strong><span style=\"font-size: medium;\">deformace ucha<\/span><\/strong><span style=\"font-size: medium;\"> nebo jej\u00ed absence a s\u00a0n\u00ed spojen\u00e1 <\/span><strong><span style=\"font-size: medium;\">\u010d\u00e1ste\u010dn\u00e1 ztr\u00e1ta sluchu<\/span><\/strong><span style=\"font-size: medium;\">. Takt\u00e9\u017e m\u016f\u017ee m\u00edt <\/span><strong><span style=\"font-size: medium;\">d\u00fdchac\u00ed pot\u00ed\u017ee<\/span><\/strong><span style=\"font-size: medium;\"> (obstrukce d\u00fdchac\u00edch cest, jako je tomu \u010dasto u TCS)<\/span><\/p>\n<ul style=\"text-align: justify;\">\n<li>\n<p class=\"western\" align=\"justify\"><strong><span style=\"font-size: medium;\">macrostoma <\/span><\/strong><span style=\"font-size: medium;\">\u2013 \u00fasta jsou nep\u0159irozen\u011b zv\u011bt\u0161en\u00e1 a t\u00e1hnou v\u00edce na jednu stranu; <\/span><\/p>\n<\/li>\n<li>\n<p class=\"western\" align=\"justify\"><strong><span style=\"font-size: medium;\">hypoplazie<\/span><\/strong><span style=\"font-size: medium;\"> \u2013 nedostate\u010dn\u011b vyvinut\u00e9 obli\u010dejov\u00e9 svalstvo, l\u00edcn\u00ed kosti a mal\u00e9 nebo deformovan\u00e9 (znetvo\u0159en\u00e9) u\u0161i; <\/span><\/p>\n<\/li>\n<li>\n<p class=\"western\" align=\"justify\"><strong><span style=\"font-size: medium;\">preauricular<\/span><\/strong><span style=\"font-size: medium;\"> \u2013 v\u00a0partii u ucha v\u00a0rovin\u011b \u00fast se obvykle vyskytuj\u00ed bu\u010f ko\u017en\u00ed v\u00fdr\u016fstky, nebo d\u016flky; <\/span><\/p>\n<\/li>\n<li>\n<p class=\"western\" align=\"justify\"><span style=\"font-size: medium;\"><strong>hemivertebr\u00e1ln\u00ed defekt<\/strong> \u2013 jde o polovinu h\u0159betn\u00edch obratl\u016f, kter\u00e9 jsou mal\u00e9 nebo nejsou vytvo\u0159eny \u00fapln\u011b; <\/span><\/p>\n<\/li>\n<li>\n<p class=\"western\" align=\"justify\"><strong><span style=\"font-size: medium;\">\u00fastn\u00ed pot\u00ed\u017ee<\/span><\/strong><span style=\"font-size: medium;\"> \u2013 nedostate\u010dn\u00e1 tvorba slin, probl\u00e9my s\u00a0tvorbou \u010di u\u017e\u00edv\u00e1n\u00edm jazyka, jsou zaznamen\u00e1ny i pot\u00ed\u017ee s\u00a0\u0159e\u010d\u00ed. <\/span><\/p>\n<\/li>\n<\/ul>\n<p class=\"western\" style=\"text-align: justify;\" align=\"justify\">\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0 <span style=\"font-size: medium;\">Odli\u0161n\u00e9 od TCS je, \u017ee pacienti s GS v 20 &#8211; 35% maj\u00ed <\/span><strong><span style=\"font-size: medium;\">probl\u00e9my s p\u00e1te\u0159\u00ed<\/span><\/strong><span style=\"font-size: medium;\"> (skolioza) a k tomu maj\u00ed \u010dasto <\/span><strong><span style=\"font-size: medium;\">probl\u00e9my s vnit\u0159n\u00edmi org\u00e1ny<\/span><\/strong><span style=\"font-size: medium;\"> (ledviny, pl\u00edce, srdce). Pacienti s GS se m\u016f\u017eou narodit jen s jednou ledvinou. <\/span><\/p>\n<p class=\"western\" style=\"text-align: justify;\" align=\"justify\">\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0 <span style=\"font-size: medium;\">Dal\u0161\u00ed minus GS v\u016f\u010di TCS je, \u017ee <\/span><span style=\"font-size: medium;\"><strong>inteligence<\/strong><b>\u00a0<\/b>m<\/span><span style=\"font-size: medium;\">\u016f\u017ee b\u00fdt <\/span><span style=\"font-size: medium;\"><strong>u n\u011bkter\u00fdch pacient\u016f podpr\u016fm\u011brn\u00e1<\/strong><b>,<\/b><\/span><span style=\"font-size: medium;\"> n\u011bkdy a\u017e ment\u00e1ln\u00ed retardace. Ve sv\u00e9m okol\u00ed jsem se setkala pouze <\/span><strong><span style=\"font-size: medium;\"><strong>s\u00a0norm\u00e1ln\u00ed inteligenc\u00ed.<\/strong><\/span><\/strong><\/p>\n<p class=\"western\" style=\"text-align: justify;\" align=\"justify\">\u00a0\u00a0\u00a0\u00a0\u00a0 <span style=\"font-size: medium;\">U mnoh\u00fdch pacient\u016f s GS se rozv\u00edj\u00ed <\/span><span style=\"font-size: medium;\"><strong>alergie<\/strong><b>,<\/b><\/span><span style=\"font-size: medium;\"> zejm\u00e9na ty neobvykl\u00e9. (nap\u0159. alergie na penicilin, Aspirin, insekticidy, apod.) <\/span><\/p>\n<p class=\"western\" style=\"text-align: justify;\" align=\"justify\"><strong><span style=\"font-size: medium;\">P\u0159\u00ed\u010diny:<\/span><\/strong><\/p>\n<ul style=\"text-align: justify;\">\n<li>\n<p class=\"western\" align=\"justify\"><span style=\"font-size: medium;\">virov\u00e9 onemocn\u011bn\u00ed b\u011bhem t\u011bhotenstv\u00ed <\/span><\/p>\n<\/li>\n<li>\n<p class=\"western\" align=\"justify\"><span style=\"font-size: medium;\">nebezpe\u010dn\u00e9 chemick\u00e9 l\u00e1tky\u00a0(zejm\u00e9na na pracovi\u0161ti) \u00a0 <\/span><\/p>\n<\/li>\n<li>\n<p class=\"western\" align=\"justify\"><span style=\"font-size: medium;\">potenci\u00e1ln\u00ed vysok\u00fd p\u0159\u00edjem vitaminu A (retinolu) na za\u010d\u00e1tku t\u011bhotenstv\u00ed <\/span><\/p>\n<\/li>\n<li>\n<p class=\"western\" align=\"justify\"><span style=\"font-size: medium;\">rizikov\u00e9 jsou t\u011bhotn\u00e9 \u017eeny s <\/span><span style=\"font-size: medium;\"><i>Diabetem mellitus (cukrovka)<\/i><\/span><span style=\"font-size: medium;\">\u00a0<\/span><\/p>\n<\/li>\n<\/ul>\n<p class=\"western\" style=\"text-align: justify;\" align=\"justify\"><strong><span style=\"font-size: medium;\">V\u00fdskyt: <\/span><\/strong><span style=\"font-size: medium;\"> 70% postihuje tento syndrom mu\u017ee. <\/span><\/p>\n<p class=\"western\" style=\"text-align: justify;\" align=\"justify\"><strong><span style=\"font-size: medium;\">D\u011bdi\u010dnost<\/span><\/strong><span style=\"font-size: medium;\"><strong>:<\/strong> oproti TCS, kde je z\u00e1kladem pr\u00e1v\u011b d\u011bdi\u010dnost, u <\/span><strong><span style=\"font-size: medium;\">GS<\/span><\/strong><span style=\"font-size: medium;\"> je pouh\u00e9 <\/span><strong><span style=\"font-size: medium;\">1-2%<\/span><\/strong><\/p>\n<p class=\"western\" style=\"text-align: justify;\" align=\"justify\"><span style=\"font-size: medium;\">Existuj\u00ed dvoj\u010data, kdy jedno z dvoj\u010dat m\u011blo GS a druh\u00e9 bylo naprosto\u00a0zdrav\u00e9. <\/span><\/p>\n<p class=\"western\" style=\"text-align: justify;\" align=\"justify\"><strong><span style=\"font-size: medium;\">Diagnostika: <\/span><\/strong><\/p>\n<p class=\"western\" style=\"text-align: justify;\" align=\"justify\"><span style=\"font-size: medium;\">op\u011bt jsou v nev\u00fdhod\u011b oproti TCS, proto\u017ee neexistuje \u017e\u00e1dn\u00fd genetick\u00fd test na odhalen\u00ed GS ji\u017e p\u0159ed narozen\u00edm. Lze diagnostikovat pouze podle ultrazvuku viditeln\u00e9 projevy. <\/span><\/p>\n<p class=\"western\" style=\"text-align: justify;\" align=\"justify\"><strong><span style=\"font-size: medium;\">L\u00e9\u010dba:<\/span><\/strong><\/p>\n<ul>\n<li style=\"text-align: justify;\">\n<p class=\"western\" align=\"justify\"><span style=\"font-size: medium;\">plastick\u00e9 operace <\/span><\/p>\n<\/li>\n<li style=\"text-align: justify;\">\n<p class=\"western\" align=\"justify\"><span style=\"font-size: medium;\">l\u00e9\u010dba onemocn\u011bn\u00ed vnit\u0159n\u00edch org\u00e1n\u016f <\/span><\/p>\n<\/li>\n<li style=\"text-align: justify;\">\n<p class=\"western\" align=\"justify\"><span style=\"font-size: medium;\">logepedick\u00e1 terapie <\/span><\/p>\n<\/li>\n<li style=\"text-align: justify;\">\n<p class=\"western\" align=\"justify\"><span style=\"font-size: medium;\">psychoterapie <\/span><\/p>\n<\/li>\n<li style=\"text-align: justify;\">\n<p class=\"western\" align=\"justify\"><span style=\"font-size: medium;\">zlep\u0161en\u00ed funkce smyslov\u00fdch org\u00e1n\u016f (br\u00fdle, sluchadla) <\/span><\/p>\n<\/li>\n<li>\n<p class=\"western\" style=\"text-align: justify;\" align=\"justify\"><span style=\"font-size: medium;\">ortodontick\u00e1\u00a0 a stomatochirurgick\u00e1 l\u00e9\u010dba (rovn\u00e1tka, posun \u010delist\u00ed, apod)<\/span><\/p>\n<p style=\"text-align: center;\"><span style=\"font-size: 14pt;\">O <strong>Goldenhar syndromu<\/strong> se do\u010dtete i na\u00a0<strong><a href=\"http:\/\/www.priznaky-projevy.cz\/geneticke-nemoci\/goldenharuv-syndrom-priznaky-projevy-symptomy\" target=\"_blank\" rel=\"noopener\">www.priznaky-projevy.cz<\/a><\/strong><\/span><\/p>\n<\/li>\n<\/ul>\n","protected":false},"excerpt":{"rendered":"<p> &#8230; <a title=\"Goldenhar syndrom (GS)\" class=\"read-more\" href=\"https:\/\/www.zivotsesyndromem.cz\/?page_id=21\" aria-label=\"\u010c\u00edst v\u00edce o Goldenhar syndrom (GS)\">Read More<\/a><\/p>\n","protected":false},"author":3,"featured_media":0,"parent":0,"menu_order":0,"comment_status":"open","ping_status":"open","template":"","meta":{"footnotes":""},"class_list":["post-21","page","type-page","status-publish"],"_links":{"self":[{"href":"https:\/\/www.zivotsesyndromem.cz\/index.php?rest_route=\/wp\/v2\/pages\/21","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.zivotsesyndromem.cz\/index.php?rest_route=\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/www.zivotsesyndromem.cz\/index.php?rest_route=\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/www.zivotsesyndromem.cz\/index.php?rest_route=\/wp\/v2\/users\/3"}],"replies":[{"embeddable":true,"href":"https:\/\/www.zivotsesyndromem.cz\/index.php?rest_route=%2Fwp%2Fv2%2Fcomments&post=21"}],"version-history":[{"count":0,"href":"https:\/\/www.zivotsesyndromem.cz\/index.php?rest_route=\/wp\/v2\/pages\/21\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.zivotsesyndromem.cz\/index.php?rest_route=%2Fwp%2Fv2%2Fmedia&parent=21"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}