{"id":449762,"date":"2026-01-17T00:30:00","date_gmt":"2026-01-16T23:30:00","guid":{"rendered":"https:\/\/medizinonline.com\/syndrome-de-wiedemann-steiner-chez-une-fillette-de-2-ans\/"},"modified":"2026-01-16T22:13:56","modified_gmt":"2026-01-16T21:13:56","slug":"syndrome-de-wiedemann-steiner-chez-une-fillette-de-2-ans","status":"publish","type":"post","link":"https:\/\/medizinonline.com\/fr\/syndrome-de-wiedemann-steiner-chez-une-fillette-de-2-ans\/","title":{"rendered":"Syndrome de Wiedemann-Steiner chez une fillette de 2 ans"},"content":{"rendered":"\n

Chez la patiente, qui pr\u00e9sentait un ph\u00e9notype caract\u00e9ris\u00e9 par un hypert\u00e9lorisme, des sourcils \u00e9pais et d’autres caract\u00e9ristiques, une mutation c.517C>T nonsense a \u00e9t\u00e9 identifi\u00e9e dans le g\u00e8ne KMT2A. Cette mutation h\u00e9t\u00e9rozygote rare entra\u00eene un codon d’arr\u00eat pr\u00e9matur\u00e9 et une haploinsuffisance. Comme la mutation n’\u00e9tait pas d\u00e9tectable chez les parents, elle est apparue de novo chez la patiente. Ce rapport de cas souligne l’importance du s\u00e9quen\u00e7age de l’exome dans le diagnostic des chromatinopathies, en particulier lorsque les caract\u00e9ristiques cliniques se chevauchent avec d’autres syndromes. <\/strong><\/p>\n\n

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Chez la patiente, qui pr\u00e9sentait un ph\u00e9notype caract\u00e9ris\u00e9 par un hypert\u00e9lorisme, des sourcils \u00e9pais et d’autres caract\u00e9ristiques, une mutation c.517C>T nonsense a \u00e9t\u00e9 identifi\u00e9e dans le g\u00e8ne KMT2A. Cette mutation……... <\/p>\n

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Already a member? Connectez-vous ici<\/a><\/div><\/div><\/div>","protected":false},"author":7,"featured_media":449763,"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":"\u00c9tude de cas","footnotes":""},"category":[11541,11531,11417,11315,11458,11549],"tags":[22715,86897,86900,86899,86896,86898],"powerkit_post_featured":[],"class_list":["post-449762","post","type-post","status-publish","format-standard","has-post-thumbnail","category-cases-fr","category-formation-continue","category-genetique","category-medecine-interne-generale","category-pediatrie","category-rx-fr","tag-etude-de-cas","tag-kmt2a","tag-sequencage-de-lexome","tag-syndrome-de-wiedemann-steiner","tag-wiedemann-steiner","tag-wss","pmpro-level-required","pmpro-level-1","pmpro-no-access"],"acf":[],"publishpress_future_action":{"enabled":false,"date":"2026-04-17 02:48:20","action":"change-status","newStatus":"draft","terms":[],"taxonomy":"category","extraData":[]},"publishpress_future_workflow_manual_trigger":{"enabledWorkflows":[]},"wpml_current_locale":"fr_FR","wpml_translations":{"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\/fr\/wp-json\/wp\/v2\/posts\/449762","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/medizinonline.com\/fr\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/medizinonline.com\/fr\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/medizinonline.com\/fr\/wp-json\/wp\/v2\/users\/7"}],"replies":[{"embeddable":true,"href":"https:\/\/medizinonline.com\/fr\/wp-json\/wp\/v2\/comments?post=449762"}],"version-history":[{"count":1,"href":"https:\/\/medizinonline.com\/fr\/wp-json\/wp\/v2\/posts\/449762\/revisions"}],"predecessor-version":[{"id":449764,"href":"https:\/\/medizinonline.com\/fr\/wp-json\/wp\/v2\/posts\/449762\/revisions\/449764"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/medizinonline.com\/fr\/wp-json\/wp\/v2\/media\/449763"}],"wp:attachment":[{"href":"https:\/\/medizinonline.com\/fr\/wp-json\/wp\/v2\/media?parent=449762"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/medizinonline.com\/fr\/wp-json\/wp\/v2\/category?post=449762"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/medizinonline.com\/fr\/wp-json\/wp\/v2\/tags?post=449762"},{"taxonomy":"powerkit_post_featured","embeddable":true,"href":"https:\/\/medizinonline.com\/fr\/wp-json\/wp\/v2\/powerkit_post_featured?post=449762"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}