{"id":9448,"date":"2023-10-23T05:54:52","date_gmt":"2023-10-23T05:54:52","guid":{"rendered":"https:\/\/sindromecharge.es\/index.php\/2023\/10\/23\/ester-madre-un-nino-con-sindrome-kabuki-nacer-nos-hablaron-terminos-esperanza-vida-eso-nos-marco-mucho\/"},"modified":"2023-10-23T05:54:52","modified_gmt":"2023-10-23T05:54:52","slug":"ester-madre-un-nino-con-sindrome-kabuki-nacer-nos-hablaron-terminos-esperanza-vida-eso-nos-marco-mucho","status":"publish","type":"post","link":"https:\/\/sindromecharge.es\/index.php\/2023\/10\/23\/ester-madre-un-nino-con-sindrome-kabuki-nacer-nos-hablaron-terminos-esperanza-vida-eso-nos-marco-mucho\/","title":{"rendered":"Ester, madre de Maci\u00e0 con s\u00edndrome de Kabuki: \u00abAl nacer, nos hablaron en t\u00e9rminos de esperanza de vida y eso nos marc\u00f3 mucho\u00bb"},"content":{"rendered":"

Leemos en Discapacidad la siguiente noticia que os reproducimos de forma \u00edntegra: <\/p>\n

\n

En 1981<\/b>, los cient\u00edficos japoneses Norio Niikawa<\/b> y Yoshikazu Kuroki<\/b> descubrieron el s\u00edndrome de Kabuki<\/a>. Lo bautizaron as\u00ed por las semejanzas que guardan los rasgos f\u00edsicos de quienes lo padecen a las hom\u00f3nimas m\u00e1scaras japonesas<\/a>. Actualmente, sigue siendo un aut\u00e9ntico desconocido para la gran mayor\u00eda de la sociedad.<\/p>\n

El s\u00edndrome de Kabuki es una entidad poco frecuente que se caracteriza por sus m\u00faltiples anomal\u00edas cong\u00e9nitas. Uno de los signos m\u00e1s representativos del Kabuki son los faciales<\/b> t\u00edpicos. Est\u00e1n presentes desde los primeros meses de vida<\/b> y son cruciales para su diagn\u00f3stico. Hasta hace no mucho, las causas de este s\u00edndrome eran un completo misterio para la ciencia<\/a>. Se desconoc\u00eda qu\u00e9 gen mutaba y provocaba este desorden cong\u00e9nito. Algo que que ya ha cambiado. Pero sigue habiendo muchas inc\u00f3gnitas alrededor de este s\u00edndrome.<\/p>\n

Marc y Ester <\/b>son pareja. Viven en Reus<\/a>. Tiene dos hijos: Maci\u00e0<\/b>, de 16 a\u00f1os, y Pep<\/b>, de 11. Maci\u00e0 est\u00e1 diagnosticado con s\u00edndrome de Kabuki. Nadie mejor que ellos para conocer, de primera mano, m\u00e1s sobre este desorden cong\u00e9nito que contin\u00faa siendo un aut\u00e9ntico desconocido para sociedad. Charlamos con Ester, madre de Maci\u00e0. Antes de comenzar la entrevista, orgullosa, nos cuenta lo bien que est\u00e1 el protagonista de esta historia. \u00abLa foto que os he enviado es del pasado fin de semana. Maci\u00e0 lleg\u00f3 hasta la cola de caballo, en Ordesa<\/a>. Camin\u00f3 20 kil\u00f3metros<\/b> entre ida y vuelta. De todo se sale\u00bb, afirma Ester.<\/p>\n<\/div>\n

Fuente: Discapacidad https:\/\/www.20minutos.es\/noticia\/5182758\/0\/ester-madre-un-nino-con-sindrome-kabuki-nacer-nos-hablaron-terminos-esperanza-vida-eso-nos-marco-mucho\/<\/p>\n","protected":false},"excerpt":{"rendered":"

En 1981, los cient\u00edficos japoneses Norio Niikawa y Yoshikazu Kuroki descubrieron el s\u00edndrome de Kabuki. Lo bautizaron as\u00ed por las semejanzas que guardan…<\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[8],"tags":[],"class_list":["post-9448","post","type-post","status-publish","format-standard","hentry","category-noticias"],"yoast_head":"\nEster, madre de Maci\u00e0 con s\u00edndrome de Kabuki: "Al nacer, nos hablaron en t\u00e9rminos de esperanza de vida y eso nos marc\u00f3 mucho" - Asociaci\u00f3n Espa\u00f1ola S\u00edndrome de Charge<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/sindromecharge.es\/index.php\/2023\/10\/23\/ester-madre-un-nino-con-sindrome-kabuki-nacer-nos-hablaron-terminos-esperanza-vida-eso-nos-marco-mucho\/\" \/>\n<meta property=\"og:locale\" content=\"es_ES\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Ester, madre de Maci\u00e0 con s\u00edndrome de Kabuki: "Al nacer, nos hablaron en t\u00e9rminos de esperanza de vida y eso nos marc\u00f3 mucho" - Asociaci\u00f3n Espa\u00f1ola S\u00edndrome de Charge\" \/>\n<meta property=\"og:description\" content=\"En 1981, los cient\u00edficos japoneses Norio Niikawa y Yoshikazu Kuroki descubrieron el s\u00edndrome de Kabuki. 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