{"id":449752,"date":"2026-01-17T00:30:00","date_gmt":"2026-01-16T23:30:00","guid":{"rendered":"https:\/\/medizinonline.com\/sindrome-de-wiedemann-steiner-numa-menina-de-2-anos\/"},"modified":"2026-01-16T22:13:56","modified_gmt":"2026-01-16T21:13:56","slug":"sindrome-de-wiedemann-steiner-numa-menina-de-2-anos","status":"publish","type":"post","link":"https:\/\/medizinonline.com\/pt-pt\/sindrome-de-wiedemann-steiner-numa-menina-de-2-anos\/","title":{"rendered":"S\u00edndrome de Wiedemann-Steiner numa menina de 2 anos"},"content":{"rendered":"\n<p><strong>Descobriu-se que o doente, que tinha um fen\u00f3tipo caracterizado por hipertelorismo, sobrancelhas grossas e outras carater\u00edsticas, tinha uma muta\u00e7\u00e3o sem sentido c.517C&gt;T no gene KMT2A. Esta muta\u00e7\u00e3o heterozig\u00f3tica rara conduz a um c\u00f3d\u00e3o de paragem prematuro e a uma haploinsufici\u00eancia. Uma vez que a muta\u00e7\u00e3o n\u00e3o era detet\u00e1vel nos pais, surgiu de novo no doente. Este caso cl\u00ednico real\u00e7a a import\u00e2ncia da sequencia\u00e7\u00e3o do exoma no diagn\u00f3stico de cromatinopatias, especialmente quando as carater\u00edsticas cl\u00ednicas se sobrep\u00f5em a outras 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\/pt-pt\/a-minha-conta\/pacotes\/\">Jetzt beitreten<\/a><\/div><div class=\"pmpro_card_actions pmpro_font-medium\">Already a member? <a href=\"https:\/\/medizinonline.com\/pt-pt\/iniciar-sessao\/?redirect_to=https%3A%2F%2Fmedizinonline.com%2Fpt-pt%2Fsindrome-de-wiedemann-steiner-numa-menina-de-2-anos%2F\">Log in here<\/a><\/div><\/div><\/div>","protected":false},"excerpt":{"rendered":"<p>Descobriu-se que o doente, que tinha um fen\u00f3tipo caracterizado por hipertelorismo, sobrancelhas grossas e outras carater\u00edsticas, tinha uma muta\u00e7\u00e3o sem sentido c.517C&gt;T no gene KMT2A. Esta muta\u00e7\u00e3o heterozig\u00f3tica rara conduz&#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\/pt-pt\/a-minha-conta\/pacotes\/\">Jetzt beitreten<\/a><\/div><div class=\"pmpro_card_actions pmpro_font-medium\">Already a member? <a href=\"https:\/\/medizinonline.com\/pt-pt\/iniciar-sessao\/?redirect_to=https%3A%2F%2Fmedizinonline.com%2Fpt-pt%2Fsindrome-de-wiedemann-steiner-numa-menina-de-2-anos%2F\">Log in here<\/a><\/div><\/div><\/div>","protected":false},"author":7,"featured_media":449757,"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":"Estudo de caso","footnotes":""},"category":[11536,11524,11411,11305,11450,11551],"tags":[22729,86887,86890,86889,86886,86888],"powerkit_post_featured":[],"class_list":["post-449752","post","type-post","status-publish","format-standard","has-post-thumbnail","category-casos-pt-pt","category-formacao-continua","category-genetica-pt-pt","category-medicina-interna-geral","category-pediatria-pt-pt","category-rx-pt","tag-estudo-de-caso","tag-kmt2a","tag-sequenciacao-do-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":"2026-04-28 00:24:12","action":"change-status","newStatus":"draft","terms":[],"taxonomy":"category","extraData":[]},"publishpress_future_workflow_manual_trigger":{"enabledWorkflows":[]},"wpml_current_locale":"pt_PT","wpml_translations":{"es_ES":{"locale":"es_ES","id":449739,"slug":"sindrome-de-wiedemann-steiner-en-una-nina-de-2-anos","post_title":"S\u00edndrome de Wiedemann-Steiner en una ni\u00f1a de 2 a\u00f1os","href":"https:\/\/medizinonline.com\/es\/sindrome-de-wiedemann-steiner-en-una-nina-de-2-anos\/"}},"_links":{"self":[{"href":"https:\/\/medizinonline.com\/pt-pt\/wp-json\/wp\/v2\/posts\/449752","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/medizinonline.com\/pt-pt\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/medizinonline.com\/pt-pt\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/medizinonline.com\/pt-pt\/wp-json\/wp\/v2\/users\/7"}],"replies":[{"embeddable":true,"href":"https:\/\/medizinonline.com\/pt-pt\/wp-json\/wp\/v2\/comments?post=449752"}],"version-history":[{"count":1,"href":"https:\/\/medizinonline.com\/pt-pt\/wp-json\/wp\/v2\/posts\/449752\/revisions"}],"predecessor-version":[{"id":449758,"href":"https:\/\/medizinonline.com\/pt-pt\/wp-json\/wp\/v2\/posts\/449752\/revisions\/449758"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/medizinonline.com\/pt-pt\/wp-json\/wp\/v2\/media\/449757"}],"wp:attachment":[{"href":"https:\/\/medizinonline.com\/pt-pt\/wp-json\/wp\/v2\/media?parent=449752"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/medizinonline.com\/pt-pt\/wp-json\/wp\/v2\/category?post=449752"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/medizinonline.com\/pt-pt\/wp-json\/wp\/v2\/tags?post=449752"},{"taxonomy":"powerkit_post_featured","embeddable":true,"href":"https:\/\/medizinonline.com\/pt-pt\/wp-json\/wp\/v2\/powerkit_post_featured?post=449752"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}