{"id":449739,"date":"2026-01-17T00:30:00","date_gmt":"2026-01-16T23:30:00","guid":{"rendered":"https:\/\/medizinonline.com\/sindrome-de-wiedemann-steiner-en-una-nina-de-2-anos\/"},"modified":"2026-01-16T22:13:56","modified_gmt":"2026-01-16T21:13:56","slug":"sindrome-de-wiedemann-steiner-en-una-nina-de-2-anos","status":"publish","type":"post","link":"https:\/\/medizinonline.com\/es\/sindrome-de-wiedemann-steiner-en-una-nina-de-2-anos\/","title":{"rendered":"S\u00edndrome de Wiedemann-Steiner en una ni\u00f1a de 2 a\u00f1os"},"content":{"rendered":"\n<p><strong>Se descubri\u00f3 que la paciente, que presentaba un fenotipo caracterizado por hipertelorismo, cejas gruesas y otros rasgos, ten\u00eda una mutaci\u00f3n sin sentido c.517C&gt;T en el gen KMT2A. Esta rara mutaci\u00f3n heterocigota provoca un cod\u00f3n de parada prematuro y haploinsuficiencia. Como la mutaci\u00f3n no era detectable en los padres, surgi\u00f3 de novo en la paciente. El informe de este caso subraya la importancia de la secuenciaci\u00f3n del exoma en el diagn\u00f3stico de las cromatopat\u00edas, especialmente cuando las caracter\u00edsticas cl\u00ednicas se solapan con otros s\u00edndromes.   <\/strong><\/p>\n\n<div class=\"pmpro\"><div class=\"pmpro_card pmpro_content_message\"><div class=\"pmpro_card_content\">Dieser Inhalt ist nur f\u00fcr Benutzer der Gruppe: Medizinische Fachperson zug\u00e4nglich <br \/><a href=\"https:\/\/medizinonline.com\/es\/mi-cuenta\/paquetes\/\">Jetzt beitreten<\/a><\/div><div class=\"pmpro_card_actions pmpro_font-medium\">\u00bfYa eres miembro? <a href=\"https:\/\/medizinonline.com\/es\/conectarse\/?redirect_to=https%3A%2F%2Fmedizinonline.com%2Fes%2Fsindrome-de-wiedemann-steiner-en-una-nina-de-2-anos%2F\">Accede aqu\u00ed<\/a><\/div><\/div><\/div>","protected":false},"excerpt":{"rendered":"<p>Se descubri\u00f3 que la paciente, que presentaba un fenotipo caracterizado por hipertelorismo, cejas gruesas y otros rasgos, ten\u00eda una mutaci\u00f3n sin sentido c.517C&gt;T en el gen KMT2A. Esta rara mutaci\u00f3n&#8230;&hellip;... <\/p>\n<div class=\"pmpro\"><div class=\"pmpro_card pmpro_content_message\"><div class=\"pmpro_card_content\">Dieser Inhalt ist nur f\u00fcr Benutzer der Gruppe: Medizinische Fachperson zug\u00e4nglich <br \/><a href=\"https:\/\/medizinonline.com\/es\/mi-cuenta\/paquetes\/\">Jetzt beitreten<\/a><\/div><div class=\"pmpro_card_actions pmpro_font-medium\">\u00bfYa eres miembro? <a href=\"https:\/\/medizinonline.com\/es\/conectarse\/?redirect_to=https%3A%2F%2Fmedizinonline.com%2Fes%2Fsindrome-de-wiedemann-steiner-en-una-nina-de-2-anos%2F\">Accede aqu\u00ed<\/a><\/div><\/div><\/div>","protected":false},"author":7,"featured_media":449749,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"pmpro_default_level":"","cat_1_feature_home_top":false,"cat_2_editor_pick":false,"csco_eyebrow_text":"Estudio de caso","footnotes":""},"category":[11493,11478,11364,11288,11402,11552],"tags":[22720,86882,86885,86884,86881,86883],"powerkit_post_featured":[],"class_list":["post-449739","post","type-post","status-publish","format-standard","has-post-thumbnail","category-casos","category-formacion-continua","category-genetica","category-medicina-interna-general","category-pediatria","category-rx-es","tag-estudio-de-caso","tag-kmt2a","tag-secuenciacion-del-exoma","tag-sindrome-de-wiedemann-steiner","tag-wiedemann-steiner","tag-wss","pmpro-level-required","pmpro-level-1","pmpro-no-access"],"acf":[],"publishpress_future_action":{"enabled":false,"date":"2026-05-21 20:34:43","action":"change-status","newStatus":"draft","terms":[],"taxonomy":"category","extraData":[]},"publishpress_future_workflow_manual_trigger":{"enabledWorkflows":[]},"wpml_current_locale":"es_ES","wpml_translations":[],"_links":{"self":[{"href":"https:\/\/medizinonline.com\/es\/wp-json\/wp\/v2\/posts\/449739","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/medizinonline.com\/es\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/medizinonline.com\/es\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/medizinonline.com\/es\/wp-json\/wp\/v2\/users\/7"}],"replies":[{"embeddable":true,"href":"https:\/\/medizinonline.com\/es\/wp-json\/wp\/v2\/comments?post=449739"}],"version-history":[{"count":1,"href":"https:\/\/medizinonline.com\/es\/wp-json\/wp\/v2\/posts\/449739\/revisions"}],"predecessor-version":[{"id":449750,"href":"https:\/\/medizinonline.com\/es\/wp-json\/wp\/v2\/posts\/449739\/revisions\/449750"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/medizinonline.com\/es\/wp-json\/wp\/v2\/media\/449749"}],"wp:attachment":[{"href":"https:\/\/medizinonline.com\/es\/wp-json\/wp\/v2\/media?parent=449739"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/medizinonline.com\/es\/wp-json\/wp\/v2\/category?post=449739"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/medizinonline.com\/es\/wp-json\/wp\/v2\/tags?post=449739"},{"taxonomy":"powerkit_post_featured","embeddable":true,"href":"https:\/\/medizinonline.com\/es\/wp-json\/wp\/v2\/powerkit_post_featured?post=449739"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}