{"id":449765,"date":"2026-01-17T00:30:00","date_gmt":"2026-01-16T23:30:00","guid":{"rendered":"https:\/\/medizinonline.com\/wiedemann-steiner-syndrome-in-a-2-year-old-girl\/"},"modified":"2026-01-16T22:13:55","modified_gmt":"2026-01-16T21:13:55","slug":"wiedemann-steiner-syndrome-in-a-2-year-old-girl","status":"publish","type":"post","link":"https:\/\/medizinonline.com\/en\/wiedemann-steiner-syndrome-in-a-2-year-old-girl\/","title":{"rendered":"Wiedemann-Steiner syndrome in a 2-year-old girl"},"content":{"rendered":"\n<p><strong>The patient, who had a phenotype characterized by hypertelorism, thick eyebrows and other features, was found to have a c.517C&gt;T nonsense mutation in the KMT2A gene. This rare heterozygous mutation leads to a premature stop codon and haploinsufficiency. As the mutation was not detectable in the parents, it arose de novo in the patient. This case report emphasizes the importance of exome sequencing in the diagnosis of chromatinopathies, especially when clinical features overlap with other syndromes.   <\/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\/en\/my-account\/packages\/\">Jetzt beitreten<\/a><\/div><div class=\"pmpro_card_actions pmpro_font-medium\">Already a member? <a href=\"https:\/\/medizinonline.com\/en\/log-in\/?redirect_to=https%3A%2F%2Fmedizinonline.com%2Fen%2Fwiedemann-steiner-syndrome-in-a-2-year-old-girl%2F\">Log in here<\/a><\/div><\/div><\/div>","protected":false},"excerpt":{"rendered":"<p>The patient, who had a phenotype characterized by hypertelorism, thick eyebrows and other features, was found to have a c.517C&gt;T nonsense mutation in the KMT2A gene. This rare heterozygous mutation&#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\/en\/my-account\/packages\/\">Jetzt beitreten<\/a><\/div><div class=\"pmpro_card_actions pmpro_font-medium\">Already a member? <a href=\"https:\/\/medizinonline.com\/en\/log-in\/?redirect_to=https%3A%2F%2Fmedizinonline.com%2Fen%2Fwiedemann-steiner-syndrome-in-a-2-year-old-girl%2F\">Log in here<\/a><\/div><\/div><\/div>","protected":false},"author":7,"featured_media":449766,"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":"Case study","footnotes":""},"category":[11520,11508,11297,11396,11437,11548],"tags":[22745,86905,86902,86901,86904,86903],"powerkit_post_featured":[],"class_list":["post-449765","post","type-post","status-publish","format-standard","has-post-thumbnail","category-cases-en","category-education","category-general-internal-medicine","category-genetics","category-pediatrics","category-rx-en","tag-case-study","tag-exome-sequencing","tag-kmt2a","tag-wiedemann-steiner","tag-wiedemann-steiner-syndrome","tag-wss","pmpro-level-required","pmpro-level-1","pmpro-no-access"],"acf":[],"publishpress_future_action":{"enabled":false,"date":"2026-04-28 13:04:01","action":"change-status","newStatus":"draft","terms":[],"taxonomy":"category","extraData":[]},"publishpress_future_workflow_manual_trigger":{"enabledWorkflows":[]},"wpml_current_locale":"en_US","wpml_translations":{"fr_FR":{"locale":"fr_FR","id":449762,"slug":"syndrome-de-wiedemann-steiner-chez-une-fillette-de-2-ans","post_title":"Syndrome de Wiedemann-Steiner chez une fillette de 2 ans","href":"https:\/\/medizinonline.com\/fr\/syndrome-de-wiedemann-steiner-chez-une-fillette-de-2-ans\/"},"it_IT":{"locale":"it_IT","id":449759,"slug":"sindrome-di-wiedemann-steiner-in-una-bambina-di-2-anni","post_title":"Sindrome di Wiedemann-Steiner in una bambina di 2 anni","href":"https:\/\/medizinonline.com\/it\/sindrome-di-wiedemann-steiner-in-una-bambina-di-2-anni\/"},"pt_PT":{"locale":"pt_PT","id":449752,"slug":"sindrome-de-wiedemann-steiner-numa-menina-de-2-anos","post_title":"S\u00edndrome de Wiedemann-Steiner numa menina de 2 anos","href":"https:\/\/medizinonline.com\/pt-pt\/sindrome-de-wiedemann-steiner-numa-menina-de-2-anos\/"},"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\/en\/wp-json\/wp\/v2\/posts\/449765","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/medizinonline.com\/en\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/medizinonline.com\/en\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/medizinonline.com\/en\/wp-json\/wp\/v2\/users\/7"}],"replies":[{"embeddable":true,"href":"https:\/\/medizinonline.com\/en\/wp-json\/wp\/v2\/comments?post=449765"}],"version-history":[{"count":1,"href":"https:\/\/medizinonline.com\/en\/wp-json\/wp\/v2\/posts\/449765\/revisions"}],"predecessor-version":[{"id":449767,"href":"https:\/\/medizinonline.com\/en\/wp-json\/wp\/v2\/posts\/449765\/revisions\/449767"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/medizinonline.com\/en\/wp-json\/wp\/v2\/media\/449766"}],"wp:attachment":[{"href":"https:\/\/medizinonline.com\/en\/wp-json\/wp\/v2\/media?parent=449765"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/medizinonline.com\/en\/wp-json\/wp\/v2\/category?post=449765"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/medizinonline.com\/en\/wp-json\/wp\/v2\/tags?post=449765"},{"taxonomy":"powerkit_post_featured","embeddable":true,"href":"https:\/\/medizinonline.com\/en\/wp-json\/wp\/v2\/powerkit_post_featured?post=449765"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}