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role="button" aria-haspopup="true" data-event-name="ui.dropdown-vector-page-titlebar-toc" class="vector-dropdown-checkbox " aria-label="Basculer la table des matières" > <label id="vector-page-titlebar-toc-label" for="vector-page-titlebar-toc-checkbox" class="vector-dropdown-label cdx-button cdx-button--fake-button cdx-button--fake-button--enabled cdx-button--weight-quiet cdx-button--icon-only " aria-hidden="true" ><span class="vector-icon mw-ui-icon-listBullet mw-ui-icon-wikimedia-listBullet"></span> <span class="vector-dropdown-label-text">Basculer la table des matières</span> </label> <div class="vector-dropdown-content"> <div id="vector-page-titlebar-toc-unpinned-container" class="vector-unpinned-container"> </div> </div> </div> </nav> <h1 id="firstHeading" class="firstHeading mw-first-heading"><span class="mw-page-title-main">Syndrome de Noonan</span></h1> <div id="p-lang-btn" class="vector-dropdown mw-portlet mw-portlet-lang" > <input type="checkbox" id="p-lang-btn-checkbox" 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Disponible en 26 langues." > <label id="p-lang-btn-label" for="p-lang-btn-checkbox" class="vector-dropdown-label cdx-button cdx-button--fake-button cdx-button--fake-button--enabled cdx-button--weight-quiet cdx-button--action-progressive mw-portlet-lang-heading-26" aria-hidden="true" ><span class="vector-icon mw-ui-icon-language-progressive mw-ui-icon-wikimedia-language-progressive"></span> <span class="vector-dropdown-label-text">26 langues</span> </label> <div class="vector-dropdown-content"> <div class="vector-menu-content"> <ul class="vector-menu-content-list"> <li class="interlanguage-link interwiki-ar mw-list-item"><a href="https://ar.wikipedia.org/wiki/%D9%85%D8%AA%D9%84%D8%A7%D8%B2%D9%85%D8%A9_%D9%86%D9%88%D9%86%D8%A7%D9%86" title="متلازمة نونان – arabe" lang="ar" hreflang="ar" data-title="متلازمة نونان" data-language-autonym="العربية" data-language-local-name="arabe" class="interlanguage-link-target"><span>العربية</span></a></li><li class="interlanguage-link interwiki-bs mw-list-item"><a href="https://bs.wikipedia.org/wiki/Noonanin_sindrom" title="Noonanin sindrom – bosniaque" lang="bs" hreflang="bs" data-title="Noonanin sindrom" data-language-autonym="Bosanski" data-language-local-name="bosniaque" class="interlanguage-link-target"><span>Bosanski</span></a></li><li class="interlanguage-link interwiki-ca mw-list-item"><a href="https://ca.wikipedia.org/wiki/S%C3%ADndrome_de_Noonan" title="Síndrome de Noonan – catalan" lang="ca" hreflang="ca" data-title="Síndrome de Noonan" data-language-autonym="Català" data-language-local-name="catalan" class="interlanguage-link-target"><span>Català</span></a></li><li class="interlanguage-link interwiki-de mw-list-item"><a href="https://de.wikipedia.org/wiki/Noonan-Syndrom" title="Noonan-Syndrom – allemand" lang="de" hreflang="de" data-title="Noonan-Syndrom" data-language-autonym="Deutsch" data-language-local-name="allemand" class="interlanguage-link-target"><span>Deutsch</span></a></li><li class="interlanguage-link interwiki-en mw-list-item"><a href="https://en.wikipedia.org/wiki/Noonan_syndrome" title="Noonan syndrome – anglais" lang="en" hreflang="en" data-title="Noonan syndrome" data-language-autonym="English" data-language-local-name="anglais" class="interlanguage-link-target"><span>English</span></a></li><li class="interlanguage-link interwiki-es mw-list-item"><a href="https://es.wikipedia.org/wiki/S%C3%ADndrome_de_Noonan" title="Síndrome de Noonan – espagnol" lang="es" hreflang="es" data-title="Síndrome de Noonan" data-language-autonym="Español" data-language-local-name="espagnol" class="interlanguage-link-target"><span>Español</span></a></li><li class="interlanguage-link interwiki-fa mw-list-item"><a href="https://fa.wikipedia.org/wiki/%D8%B3%D9%86%D8%AF%D8%B1%D9%85_%D9%86%D9%88%D9%86%D8%A7%D9%86" title="سندرم نونان – persan" lang="fa" hreflang="fa" data-title="سندرم نونان" data-language-autonym="فارسی" data-language-local-name="persan" class="interlanguage-link-target"><span>فارسی</span></a></li><li class="interlanguage-link interwiki-fi mw-list-item"><a href="https://fi.wikipedia.org/wiki/Noonanin_oireyhtym%C3%A4" title="Noonanin oireyhtymä – finnois" lang="fi" hreflang="fi" data-title="Noonanin oireyhtymä" data-language-autonym="Suomi" data-language-local-name="finnois" class="interlanguage-link-target"><span>Suomi</span></a></li><li class="interlanguage-link interwiki-he mw-list-item"><a href="https://he.wikipedia.org/wiki/%D7%AA%D7%A1%D7%9E%D7%95%D7%A0%D7%AA_%D7%A0%D7%95%D7%A0%D7%90%D7%9F" title="תסמונת נונאן – hébreu" lang="he" hreflang="he" data-title="תסמונת נונאן" data-language-autonym="עברית" data-language-local-name="hébreu" class="interlanguage-link-target"><span>עברית</span></a></li><li class="interlanguage-link interwiki-hu mw-list-item"><a href="https://hu.wikipedia.org/wiki/Noonan-szindr%C3%B3ma" title="Noonan-szindróma – hongrois" lang="hu" hreflang="hu" data-title="Noonan-szindróma" data-language-autonym="Magyar" data-language-local-name="hongrois" class="interlanguage-link-target"><span>Magyar</span></a></li><li class="interlanguage-link interwiki-it mw-list-item"><a href="https://it.wikipedia.org/wiki/Sindrome_di_Noonan" title="Sindrome di Noonan – italien" lang="it" hreflang="it" data-title="Sindrome di Noonan" data-language-autonym="Italiano" data-language-local-name="italien" class="interlanguage-link-target"><span>Italiano</span></a></li><li class="interlanguage-link interwiki-ja mw-list-item"><a href="https://ja.wikipedia.org/wiki/%E3%83%8C%E3%83%BC%E3%83%8A%E3%83%B3%E7%97%87%E5%80%99%E7%BE%A4" title="ヌーナン症候群 – japonais" lang="ja" hreflang="ja" data-title="ヌーナン症候群" data-language-autonym="日本語" data-language-local-name="japonais" class="interlanguage-link-target"><span>日本語</span></a></li><li class="interlanguage-link interwiki-kk mw-list-item"><a href="https://kk.wikipedia.org/wiki/%D0%9D%D1%83%D0%BD%D0%B0%D0%BD_%D1%81%D0%B8%D0%BD%D0%B4%D1%80%D0%BE%D0%BC%D1%8B" title="Нунан синдромы – kazakh" lang="kk" hreflang="kk" data-title="Нунан синдромы" data-language-autonym="Қазақша" data-language-local-name="kazakh" class="interlanguage-link-target"><span>Қазақша</span></a></li><li class="interlanguage-link interwiki-ko mw-list-item"><a href="https://ko.wikipedia.org/wiki/%EB%88%84%EB%82%9C_%EC%A6%9D%ED%9B%84%EA%B5%B0" title="누난 증후군 – coréen" lang="ko" hreflang="ko" data-title="누난 증후군" data-language-autonym="한국어" data-language-local-name="coréen" class="interlanguage-link-target"><span>한국어</span></a></li><li class="interlanguage-link interwiki-nl mw-list-item"><a href="https://nl.wikipedia.org/wiki/Syndroom_van_Noonan" title="Syndroom van Noonan – néerlandais" lang="nl" hreflang="nl" data-title="Syndroom van Noonan" data-language-autonym="Nederlands" data-language-local-name="néerlandais" class="interlanguage-link-target"><span>Nederlands</span></a></li><li class="interlanguage-link interwiki-or mw-list-item"><a href="https://or.wikipedia.org/wiki/%E0%AC%A8%E0%AD%81%E0%AC%A8%E0%AC%BE%E0%AC%A8_%E0%AC%B8%E0%AC%BF%E0%AC%A3%E0%AD%8D%E0%AC%A1%E0%AD%8D%E0%AC%B0%E0%AD%8B%E0%AC%AE" title="ନୁନାନ ସିଣ୍ଡ୍ରୋମ – odia" lang="or" hreflang="or" data-title="ନୁନାନ ସିଣ୍ଡ୍ରୋମ" data-language-autonym="ଓଡ଼ିଆ" data-language-local-name="odia" class="interlanguage-link-target"><span>ଓଡ଼ିଆ</span></a></li><li class="interlanguage-link interwiki-pl mw-list-item"><a href="https://pl.wikipedia.org/wiki/Zesp%C3%B3%C5%82_Noonan" title="Zespół Noonan – polonais" lang="pl" hreflang="pl" data-title="Zespół Noonan" data-language-autonym="Polski" data-language-local-name="polonais" class="interlanguage-link-target"><span>Polski</span></a></li><li class="interlanguage-link interwiki-pt mw-list-item"><a href="https://pt.wikipedia.org/wiki/S%C3%ADndrome_de_Noonan" title="Síndrome de Noonan – portugais" lang="pt" hreflang="pt" data-title="Síndrome de Noonan" data-language-autonym="Português" data-language-local-name="portugais" class="interlanguage-link-target"><span>Português</span></a></li><li class="interlanguage-link interwiki-ru mw-list-item"><a href="https://ru.wikipedia.org/wiki/%D0%A1%D0%B8%D0%BD%D0%B4%D1%80%D0%BE%D0%BC_%D0%9D%D1%83%D0%BD%D0%B0%D0%BD" title="Синдром Нунан – russe" lang="ru" hreflang="ru" data-title="Синдром Нунан" data-language-autonym="Русский" data-language-local-name="russe" class="interlanguage-link-target"><span>Русский</span></a></li><li class="interlanguage-link interwiki-sr mw-list-item"><a href="https://sr.wikipedia.org/wiki/%D0%9D%D1%83%D0%BD%D0%B0%D0%BD%D0%BE%D0%B2_%D1%81%D0%B8%D0%BD%D0%B4%D1%80%D0%BE%D0%BC" title="Нунанов синдром – serbe" lang="sr" hreflang="sr" data-title="Нунанов синдром" data-language-autonym="Српски / srpski" data-language-local-name="serbe" class="interlanguage-link-target"><span>Српски / srpski</span></a></li><li class="interlanguage-link interwiki-sv mw-list-item"><a href="https://sv.wikipedia.org/wiki/Noonans_syndrom" title="Noonans syndrom – suédois" lang="sv" hreflang="sv" data-title="Noonans syndrom" data-language-autonym="Svenska" data-language-local-name="suédois" class="interlanguage-link-target"><span>Svenska</span></a></li><li class="interlanguage-link interwiki-th mw-list-item"><a href="https://th.wikipedia.org/wiki/%E0%B8%81%E0%B8%A5%E0%B8%B8%E0%B9%88%E0%B8%A1%E0%B8%AD%E0%B8%B2%E0%B8%81%E0%B8%B2%E0%B8%A3%E0%B8%99%E0%B8%B9%E0%B9%81%E0%B8%99%E0%B8%99" title="กลุ่มอาการนูแนน – thaï" lang="th" hreflang="th" data-title="กลุ่มอาการนูแนน" data-language-autonym="ไทย" data-language-local-name="thaï" class="interlanguage-link-target"><span>ไทย</span></a></li><li class="interlanguage-link interwiki-tr mw-list-item"><a href="https://tr.wikipedia.org/wiki/Noonan_sendromu" title="Noonan sendromu – turc" lang="tr" hreflang="tr" data-title="Noonan sendromu" data-language-autonym="Türkçe" data-language-local-name="turc" class="interlanguage-link-target"><span>Türkçe</span></a></li><li class="interlanguage-link interwiki-uz mw-list-item"><a href="https://uz.wikipedia.org/wiki/Nunan_sindromi" title="Nunan sindromi – ouzbek" lang="uz" hreflang="uz" data-title="Nunan sindromi" data-language-autonym="Oʻzbekcha / ўзбекча" data-language-local-name="ouzbek" class="interlanguage-link-target"><span>Oʻzbekcha / ўзбекча</span></a></li><li class="interlanguage-link interwiki-vi mw-list-item"><a href="https://vi.wikipedia.org/wiki/H%E1%BB%99i_ch%E1%BB%A9ng_Noonan" title="Hội chứng Noonan – vietnamien" lang="vi" hreflang="vi" data-title="Hội chứng Noonan" data-language-autonym="Tiếng Việt" data-language-local-name="vietnamien" class="interlanguage-link-target"><span>Tiếng Việt</span></a></li><li class="interlanguage-link interwiki-zh mw-list-item"><a href="https://zh.wikipedia.org/wiki/%E5%8A%AA%E5%8D%97%E6%B0%8F%E7%97%87%E5%80%99%E7%BE%A4" title="努南氏症候群 – chinois" lang="zh" 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class="vector-pinnable-header vector-appearance-pinnable-header vector-pinnable-header-pinned" data-feature-name="appearance-pinned" data-pinnable-element-id="vector-appearance" data-pinned-container-id="vector-appearance-pinned-container" data-unpinned-container-id="vector-appearance-unpinned-container" > <div class="vector-pinnable-header-label">Apparence</div> <button class="vector-pinnable-header-toggle-button vector-pinnable-header-pin-button" data-event-name="pinnable-header.vector-appearance.pin">déplacer vers la barre latérale</button> <button class="vector-pinnable-header-toggle-button vector-pinnable-header-unpin-button" data-event-name="pinnable-header.vector-appearance.unpin">masquer</button> </div> </div> </div> </nav> </div> </div> <div id="bodyContent" class="vector-body" aria-labelledby="firstHeading" data-mw-ve-target-container> <div class="vector-body-before-content"> <div class="mw-indicators"> </div> <div id="siteSub" class="noprint">Un article de Wikipédia, l'encyclopédie libre.</div> </div> <div id="contentSub"><div id="mw-content-subtitle"></div></div> <div id="mw-content-text" class="mw-body-content"><div class="mw-content-ltr mw-parser-output" lang="fr" dir="ltr"><div class="infobox_v3 infobox infobox--frwiki noarchive large" style="width:22em"> <div class="entete icon defaut" style="background-color: lightgrey; color: #000000;"> <div>Syndrome de Noonan</div> </div> <div class="images"><span class="mw-default-size" typeof="mw:File/Frameless"><a href="/wiki/Fichier:Noonan_syndrome.PNG" class="mw-file-description"><img alt="Description de cette image, également commentée ci-après" src="//upload.wikimedia.org/wikipedia/commons/thumb/6/69/Noonan_syndrome.PNG/260px-Noonan_syndrome.PNG" decoding="async" width="260" height="223" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/6/69/Noonan_syndrome.PNG/390px-Noonan_syndrome.PNG 1.5x, //upload.wikimedia.org/wikipedia/commons/thumb/6/69/Noonan_syndrome.PNG/520px-Noonan_syndrome.PNG 2x" data-file-width="753" data-file-height="645" /></a></span> </div> <div class="legend">Jeune fille de 12 ans présentant un <b>syndrome de Noonan</b> : cou court, large et palmé, colonne vertébrale déviée selon deux courbures.</div> <table><caption class="hidden" style="">Données clés</caption> </table><p class="mw-empty-elt"> </p><table><caption style="background-color:lightgrey;">Traitement</caption> <tbody><tr> <th scope="row"><a href="/wiki/Sp%C3%A9cialit%C3%A9_m%C3%A9dicale" title="Spécialité médicale">Spécialité</a></th> <td> <span class="wd_p1995"><a href="/wiki/G%C3%A9n%C3%A9tique_m%C3%A9dicale" title="Génétique médicale">Génétique médicale</a><span class="noprint wikidata-linkback skin-invert"><span class="mw-valign-baseline noviewer" typeof="mw:File"><a href="https://www.wikidata.org/wiki/Q1543446?uselang=fr#P1995" title="Voir et modifier les données sur Wikidata"><img alt="Voir et modifier les données sur Wikidata" src="//upload.wikimedia.org/wikipedia/commons/thumb/7/73/Blue_pencil.svg/10px-Blue_pencil.svg.png" decoding="async" width="10" height="10" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/7/73/Blue_pencil.svg/15px-Blue_pencil.svg.png 1.5x, //upload.wikimedia.org/wikipedia/commons/thumb/7/73/Blue_pencil.svg/20px-Blue_pencil.svg.png 2x" data-file-width="600" data-file-height="600" /></a></span></span></span></td> </tr> </tbody></table> <table><caption style="background-color:lightgrey;">Classification et ressources externes</caption> <tbody><tr> <th scope="row"><a href="/wiki/Classification_internationale_des_maladies" title="Classification internationale des maladies">CIM</a>-<a href="/wiki/Liste_de_codes_CIM-10" title="Liste de codes CIM-10">10</a></th> <td> <a rel="nofollow" class="external text" href="http://apps.who.int/classifications/icd10/browse/2008/fr#/Q87.1">Q87.1</a></td> </tr> <tr> <th scope="row"><a href="/wiki/Classification_internationale_des_maladies" title="Classification internationale des maladies">CIM</a>-<a href="/wiki/Liste_de_codes_CIM-9" title="Liste de codes CIM-9">9</a></th> <td> <a rel="nofollow" class="external text" href="http://www.icd9data.com/getICD9Code.ashx?icd9=759.89">759.89</a></td> </tr> <tr> <th scope="row"><a href="/wiki/H%C3%A9ritage_mend%C3%A9lien_chez_l%27humain" title="Héritage mendélien chez l'humain">OMIM</a></th> <td> <a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/omim/163950">163950</a></td> </tr> <tr> <th scope="row">DiseasesDB</th> <td> <a rel="nofollow" class="external text" href="http://www.diseasesdatabase.com/ddb29094.htm">29094</a></td> </tr> <tr> <th scope="row"><a href="/wiki/MedlinePlus" title="MedlinePlus">MedlinePlus</a></th> <td> <a rel="nofollow" class="external text" href="https://www.nlm.nih.gov/medlineplus/ency/article/001656.htm">001656</a></td> </tr> <tr> <th scope="row"><a href="/wiki/EMedicine" title="EMedicine">eMedicine</a></th> <td> <a rel="nofollow" class="external text" href="https://emedicine.medscape.com/article/947504">947504</a></td> </tr> <tr> <th scope="row"><a href="/wiki/Medical_Subject_Headings" title="Medical Subject Headings">MeSH</a></th> <td> <a rel="nofollow" class="external text" href="https://meshb.nlm.nih.gov/record/ui?ui=D009634">D009634</a></td> </tr> <tr> <th scope="row"><a href="/wiki/Patient_UK" title="Patient UK">Patient UK</a></th> <td> <a rel="nofollow" class="external text" href="https://patient.info/doctor/Noonans-Syndrome">Noonans-Syndrome</a></td> </tr> </tbody></table> <p class="bloc" style="background-color:lightgrey; color:#FFFFFF;"><span typeof="mw:File"><a href="/wiki/Wikip%C3%A9dia:Mise_en_garde_m%C3%A9dicale" title="Wikipédia ne donne pas de conseils médicaux"><img alt="Wikipédia ne donne pas de conseils médicaux" src="//upload.wikimedia.org/wikipedia/commons/thumb/d/d5/Star_of_life_caution.svg/24px-Star_of_life_caution.svg.png" decoding="async" width="24" height="22" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/d/d5/Star_of_life_caution.svg/36px-Star_of_life_caution.svg.png 1.5x, //upload.wikimedia.org/wikipedia/commons/thumb/d/d5/Star_of_life_caution.svg/48px-Star_of_life_caution.svg.png 2x" data-file-width="210" data-file-height="190" /></a></span> <a href="/wiki/Wikip%C3%A9dia:Mise_en_garde_m%C3%A9dicale" title="Wikipédia:Mise en garde médicale">Mise en garde médicale</a></p> <p class="navbar bordered noprint" style="border-color:lightgrey;"><span class="plainlinks"><a class="external text" href="https://fr.wikipedia.org/w/index.php?title=Syndrome_de_Noonan&veaction=edit&section=0">modifier</a> - <a class="external text" href="https://fr.wikipedia.org/w/index.php?title=Syndrome_de_Noonan&action=edit&section=0">modifier le code</a> - <a href="https://www.wikidata.org/wiki/Special:ItemByTitle/frwiki/Syndrome_de_Noonan" class="extiw" title="d:Special:ItemByTitle/frwiki/Syndrome de Noonan">voir Wikidata</a> <a href="/wiki/Aide:Infobox_Wikidata" title="Aide:Infobox Wikidata">(aide)</a></span> <span typeof="mw:File"><a href="/wiki/Mod%C3%A8le:Infobox_Maladie" title="Consultez la documentation du modèle"><img alt="" src="//upload.wikimedia.org/wikipedia/commons/thumb/3/38/Info_Simple.svg/12px-Info_Simple.svg.png" decoding="async" width="12" height="12" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/3/38/Info_Simple.svg/18px-Info_Simple.svg.png 1.5x, //upload.wikimedia.org/wikipedia/commons/thumb/3/38/Info_Simple.svg/24px-Info_Simple.svg.png 2x" data-file-width="512" data-file-height="512" /></a></span></p></div> <p>Le <dfn>syndrome de Noonan</dfn> est une <a href="/wiki/Maladie_cong%C3%A9nitale" title="Maladie congénitale">maladie congénitale</a>, génétiquement répandue, considérée être un type de <a href="/wiki/Nanisme" title="Nanisme">nanisme</a> affectant d'une manière égale les garçons et les filles<sup id="cite_ref-Andrews_1-0" class="reference"><a href="#cite_note-Andrews-1"><span class="cite_crochet">[</span>1<span class="cite_crochet">]</span></a></sup>. Il semblerait être une version masculine du <a href="/wiki/Syndrome_de_Turner" title="Syndrome de Turner">syndrome de Turner</a><sup id="cite_ref-Curcić-Stojković_1978_2-0" class="reference"><a href="#cite_note-Curcić-Stojković_1978-2"><span class="cite_crochet">[</span>2<span class="cite_crochet">]</span></a></sup> (et est souvent décrit de cette manière), cependant, les causes <a href="/wiki/G%C3%A9n%C3%A9tique" title="Génétique">génétiques</a> du syndrome de Noonan sont différentes. Les symptômes principaux incluent <a href="/wiki/Cardiopathie_cong%C3%A9nitale" title="Cardiopathie congénitale">cardiopathie congénitale</a>, petite taille, <a href="/wiki/Trouble_d%27apprentissage" title="Trouble d'apprentissage">problèmes d'apprentissage</a>, <i><span class="lang-la" lang="la"><a href="/wiki/Pectus_excavatum" title="Pectus excavatum">pectus excavatum</a></span></i> (aspect inhabituel du <a href="/wiki/Thorax" title="Thorax">thorax</a> avec implantation basse des mamelons), anomalies de la <a href="/wiki/Coagulation_sanguine" title="Coagulation sanguine">coagulation sanguine</a> et faciès caractéristique (<a href="/wiki/Cou" title="Cou">cou</a> large ou palmé). </p><p>Le <a href="/wiki/Syndrome" title="Syndrome">syndrome</a> a été nommé d'après la docteure <a href="/w/index.php?title=Jacqueline_Noonan&action=edit&redlink=1" class="new" title="Jacqueline Noonan (page inexistante)">Jacqueline Noonan</a> <a href="https://en.wikipedia.org/wiki/Jacqueline_Noonan" class="extiw" title="en:Jacqueline Noonan"><span class="indicateur-langue" title="Article en anglais : « Jacqueline Noonan »">(en)</span></a> (1928-2020) qui l'a décrit en 1963<sup id="cite_ref-Noonan_1963_3-0" class="reference"><a href="#cite_note-Noonan_1963-3"><span class="cite_crochet">[</span>3<span class="cite_crochet">]</span></a></sup>. </p> <meta property="mw:PageProp/toc" /> <div class="mw-heading mw-heading2"><h2 id="Épidémiologie"><span id=".C3.89pid.C3.A9miologie"></span>Épidémiologie</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Syndrome_de_Noonan&veaction=edit&section=1" title="Modifier la section : Épidémiologie" class="mw-editsection-visualeditor"><span>modifier</span></a><span class="mw-editsection-divider"> | </span><a href="/w/index.php?title=Syndrome_de_Noonan&action=edit&section=1" title="Modifier le code source de la section : Épidémiologie"><span>modifier le code</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Approximativement 1 sur 1 000, et 1 sur 2 500 enfants dans le monde naissent avec ce syndrome<sup id="cite_ref-Roberts_2013_4-0" class="reference"><a href="#cite_note-Roberts_2013-4"><span class="cite_crochet">[</span>4<span class="cite_crochet">]</span></a></sup>. Il est le deuxième syndrome génétique le plus répandu associé à une cardiopathie, après le <a href="/wiki/Syndrome_de_Down" class="mw-redirect" title="Syndrome de Down">syndrome de Down</a><sup id="cite_ref-Roberts_2013_4-1" class="reference"><a href="#cite_note-Roberts_2013-4"><span class="cite_crochet">[</span>4<span class="cite_crochet">]</span></a></sup>. Cependant, le niveau de sévérité peut varier en fonction des patients atteints de ce syndrome. Néanmoins, le syndrome n'est pas directement diagnostiqué dès le plus jeune âge. </p> <div class="mw-heading mw-heading2"><h2 id="Étiologie"><span id=".C3.89tiologie"></span>Étiologie</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Syndrome_de_Noonan&veaction=edit&section=2" title="Modifier la section : Étiologie" class="mw-editsection-visualeditor"><span>modifier</span></a><span class="mw-editsection-divider"> | </span><a href="/w/index.php?title=Syndrome_de_Noonan&action=edit&section=2" title="Modifier le code source de la section : Étiologie"><span>modifier le code</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>La maladie fait partie de celles secondaires à des mutations sur des gènes de la famille des <a href="/wiki/Prot%C3%A9ine_Ras" title="Protéine Ras">protéines <i>Ras</i></a>. </p><p>Plusieurs gènes sont connus comme responsables : </p> <ul><li>une mutation du <a href="/wiki/G%C3%A8ne" title="Gène">gène</a> <i><a href="/wiki/PTPN11" title="PTPN11">PTPN11</a></i> (de l'<a href="/wiki/Anglais" title="Anglais">anglais</a> : <span class="lang-en" lang="en">protein tyrosine phosphatase, non-receptor type</span> 11) du <a href="/wiki/Locus" title="Locus">locus</a> q24.1 du <a href="/wiki/Chromosome" title="Chromosome">chromosome</a> <a href="/wiki/Chromosome_12_humain" title="Chromosome 12 humain">12</a> retrouvé dans 50 % des cas<sup id="cite_ref-Tartaglia_2002_5-0" class="reference"><a href="#cite_note-Tartaglia_2002-5"><span class="cite_crochet">[</span>5<span class="cite_crochet">]</span></a></sup> ;</li> <li>les mutations des <a href="/wiki/G%C3%A8ne" title="Gène">gènes</a> <i><a href="/wiki/KRAS" title="KRAS">KRAS</a></i>, <i><a href="/w/index.php?title=SOS1&action=edit&redlink=1" class="new" title="SOS1 (page inexistante)">SOS1</a></i>, <i><a href="/wiki/RAF1" title="RAF1">RAF1</a></i>, <i><a href="/w/index.php?title=NRAS&action=edit&redlink=1" class="new" title="NRAS (page inexistante)">NRAS</a></i>, <i><a href="/w/index.php?title=BRAF&action=edit&redlink=1" class="new" title="BRAF (page inexistante)">BRAF</a></i>, <i><a href="/w/index.php?title=SHOC2&action=edit&redlink=1" class="new" title="SHOC2 (page inexistante)">SHOC2</a></i>, <i><a href="/wiki/CBL" class="mw-disambig" title="CBL">CBL</a></i>, <i><a href="/w/index.php?title=RIT1&action=edit&redlink=1" class="new" title="RIT1 (page inexistante)">RIT1</a></i><sup id="cite_ref-Aoki_2013_6-0" class="reference"><a href="#cite_note-Aoki_2013-6"><span class="cite_crochet">[</span>6<span class="cite_crochet">]</span></a></sup> et <i><a href="/w/index.php?title=PPP1CB&action=edit&redlink=1" class="new" title="PPP1CB (page inexistante)">PPP1CB</a></i><sup id="cite_ref-Gripp_2016_7-0" class="reference"><a href="#cite_note-Gripp_2016-7"><span class="cite_crochet">[</span>7<span class="cite_crochet">]</span></a></sup>, donnent également des syndromes de Noonan.</li> <li>Une mutation du gène <i><a href="/w/index.php?title=LZTR1&action=edit&redlink=1" class="new" title="LZTR1 (page inexistante)">LZTR1</a></i>, donne une forme du syndrome de Noonan avec <a href="/wiki/Cardiomyopathie_hypertrophique" title="Cardiomyopathie hypertrophique">cardiomyopathie hypertrophique</a> importante<sup id="cite_ref-Hanses_2020_8-0" class="reference"><a href="#cite_note-Hanses_2020-8"><span class="cite_crochet">[</span>8<span class="cite_crochet">]</span></a></sup>.</li></ul> <p>La transmission est de type <a href="/wiki/Transmission_autosomique_dominante" title="Transmission autosomique dominante">autosomique dominante</a> mais la plupart des individus affectés sont le résultat d’une mutation <i><span class="lang-la" lang="la">de novo</span></i>. 30 à 50 % des parents d’enfants atteints sont porteurs d'une mutation sur le gène <i>PTPN11</i><sup class="need_ref_tag" style="padding-left:2px;"><a href="/wiki/Aide:R%C3%A9f%C3%A9rence_n%C3%A9cessaire" title="Aide:Référence nécessaire"><span title="Ce passage nécessite une référence ; voir l'aide.">[réf. nécessaire]</span></a></sup>. </p> <div class="mw-heading mw-heading2"><h2 id="Clinique">Clinique</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Syndrome_de_Noonan&veaction=edit&section=3" title="Modifier la section : Clinique" class="mw-editsection-visualeditor"><span>modifier</span></a><span class="mw-editsection-divider"> | </span><a href="/w/index.php?title=Syndrome_de_Noonan&action=edit&section=3" title="Modifier le code source de la section : Clinique"><span>modifier le code</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>La description du syndrome de Noonan est souvent cliniquement bien établie<sup id="cite_ref-Allanson_1987_9-0" class="reference"><a href="#cite_note-Allanson_1987-9"><span class="cite_crochet">[</span>9<span class="cite_crochet">]</span></a></sup>. L'un des symptômes inclut le faciès caractéristique. Les <a href="/wiki/Oreille" title="Oreille">oreilles</a> implantées sont basses et orientées en arrière et les <a href="/wiki/%C5%92il" title="Œil">yeux</a> écartés, <i><a href="/wiki/Philtrum" title="Philtrum">philtrum</a></i> profond, bordures vermillon de la <a href="/wiki/L%C3%A8vre" title="Lèvre">lèvre</a> supérieure, petit cou (<i><a href="/wiki/Pterygium_colli" title="Pterygium colli">pterygium colli</a></i>) avec implantation basse des <a href="/wiki/Cheveu" title="Cheveu">cheveux</a>. Les caractéristiques faciales sont nettes chez le nouveau-né et tendent à disparaître avec la croissance. La petite taille est également un symptôme du syndrome de Noonan. La taille à la naissance est normale mais à l’âge adulte, la taille est à la limite inférieure de la normale. Des déformations de la colonne vertébrale (<a href="/wiki/Scoliose" title="Scoliose">scoliose</a>, <a href="/wiki/Lordose_(physiologie)" title="Lordose (physiologie)">lordose</a>) sont présentes dans un tiers des cas<sup id="cite_ref-Lee_2001_10-0" class="reference"><a href="#cite_note-Lee_2001-10"><span class="cite_crochet">[</span>10<span class="cite_crochet">]</span></a></sup>. </p><p>La <a href="/wiki/Cardiopathie_cong%C3%A9nitale" title="Cardiopathie congénitale">cardiopathie congénitale</a> est présente entre 50 et 80 % des enfants atteints<sup class="need_ref_tag" style="padding-left:2px;"><a href="/wiki/Aide:R%C3%A9f%C3%A9rence_n%C3%A9cessaire" title="Aide:Référence nécessaire"><span title="Ce passage nécessite une référence ; voir l'aide.">[réf. nécessaire]</span></a></sup>. Les anomalies cardiaques les plus fréquentes sont une <a href="/wiki/St%C3%A9nose_valvulaire_pulmonaire" class="mw-redirect" title="Sténose valvulaire pulmonaire">sténose valvulaire pulmonaire</a> et une <a href="/wiki/Cardiomyopathie_hypertrophique" title="Cardiomyopathie hypertrophique">cardiomyopathie hypertrophique</a> du ventricule gauche<sup id="cite_ref-Marino_1999_11-0" class="reference"><a href="#cite_note-Marino_1999-11"><span class="cite_crochet">[</span>11<span class="cite_crochet">]</span></a></sup>. D’autres anomalies ont été décrites comprenant <a href="/wiki/Communication_inter-auriculaire" class="mw-redirect" title="Communication inter-auriculaire">communication inter-auriculaire</a>, <a href="/wiki/Communication_inter-ventriculaire" class="mw-redirect" title="Communication inter-ventriculaire">communication inter-ventriculaire</a>, <a href="/wiki/St%C3%A9nose" title="Sténose">sténose</a> des branches de l’artère pulmonaire, <a href="/wiki/T%C3%A9tralogie_de_Fallot" title="Tétralogie de Fallot">tétralogie de Fallot</a>. </p><p>Un quart des enfants ont des difficultés d'apprentissage<sup id="cite_ref-Lee_2005_12-0" class="reference"><a href="#cite_note-Lee_2005-12"><span class="cite_crochet">[</span>12<span class="cite_crochet">]</span></a></sup> mais la plupart peuvent suivre une scolarité normale avec parfois un soutien complémentaire. Les performances verbales sont un peu plus faibles que les performances non verbales<sup id="cite_ref-Lee_2005_12-1" class="reference"><a href="#cite_note-Lee_2005-12"><span class="cite_crochet">[</span>12<span class="cite_crochet">]</span></a></sup>. Il existe des troubles de l'audition, situés dans les fréquences élevées dans près de la moitié des porteurs du syndrome<sup id="cite_ref-Qiu_1998_13-0" class="reference"><a href="#cite_note-Qiu_1998-13"><span class="cite_crochet">[</span>13<span class="cite_crochet">]</span></a></sup>. </p><p>Les troubles de la coagulation sont également fréquents. Ils peuvent inclure <a href="/wiki/Maladie_de_Willebrand" title="Maladie de Willebrand">maladie de Willebrand</a>, <a href="/wiki/Thrombocytop%C3%A9nie" class="mw-redirect" title="Thrombocytopénie">thrombocytopénie</a> et déficit de plusieurs facteurs de la coagulation entraînant souvent des <a href="/wiki/H%C3%A9morragie" title="Hémorragie">saignements</a> anormaux<sup id="cite_ref-Sharland_1992_DiC_14-0" class="reference"><a href="#cite_note-Sharland_1992_DiC-14"><span class="cite_crochet">[</span>14<span class="cite_crochet">]</span></a></sup>. </p><p>Du côté des autres symptômes : <a href="/wiki/Pubert%C3%A9" title="Puberté">puberté</a> retardée chez les filles mais <a href="/wiki/Fertilit%C3%A9" title="Fertilité">fertilité</a> normale. Les garçons ont très souvent une <a href="/wiki/Cryptorchidie" title="Cryptorchidie">cryptorchidie</a> bilatérale<sup id="cite_ref-Sharland_1992_DiC_14-1" class="reference"><a href="#cite_note-Sharland_1992_DiC-14"><span class="cite_crochet">[</span>14<span class="cite_crochet">]</span></a></sup>. </p><p>L'examen clinique peut révéler un gros foie (<a href="/wiki/H%C3%A9patom%C3%A9galie" title="Hépatomégalie">hépatomégalie</a>) dans près de la moitié des cas<sup id="cite_ref-Sharland_1992_Lancet_15-0" class="reference"><a href="#cite_note-Sharland_1992_Lancet-15"><span class="cite_crochet">[</span>15<span class="cite_crochet">]</span></a></sup>. L'examen de la peau montre de fréquents <a href="/wiki/N%C3%A6vus" class="mw-redirect" title="Nævus">nævus</a>, des <a href="/wiki/Lentigo" title="Lentigo">lentigines</a>, des <a href="/wiki/Tache_caf%C3%A9_au_lait" title="Tache café au lait">taches « café au lait »</a><sup id="cite_ref-Roberts_2013_4-2" class="reference"><a href="#cite_note-Roberts_2013-4"><span class="cite_crochet">[</span>4<span class="cite_crochet">]</span></a></sup>. </p> <div class="mw-heading mw-heading2"><h2 id="Diagnostic">Diagnostic</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Syndrome_de_Noonan&veaction=edit&section=4" title="Modifier la section : Diagnostic" class="mw-editsection-visualeditor"><span>modifier</span></a><span class="mw-editsection-divider"> | </span><a href="/w/index.php?title=Syndrome_de_Noonan&action=edit&section=4" title="Modifier le code source de la section : Diagnostic"><span>modifier le code</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Le <a href="/wiki/Diagnostic_(m%C3%A9decine)" title="Diagnostic (médecine)">diagnostic</a> est essentiellement basé sur la <a href="/wiki/Examen_clinique" title="Examen clinique">clinique</a>. La recherche de la mutation ne la révèle que parmi 50 % des individus porteurs de cette maladie. </p><p>Cette maladie doit être distinguée des autres pathologies associant visage caractéristique, cardiopathie congénitale et retard mental : <a href="/wiki/Syndrome_de_Turner" title="Syndrome de Turner">syndrome de Turner</a>, <a href="/wiki/Syndrome_de_Williams" title="Syndrome de Williams">syndrome de Williams</a>, <a href="/wiki/Exposition_pr%C3%A9natale_%C3%A0_l%27alcool" title="Exposition prénatale à l'alcool">syndrome d'alcoolisation fœtale</a>, <a href="/wiki/Syndrome_de_Watson" title="Syndrome de Watson">syndrome de Watson</a>, <a href="/wiki/Syndrome_cardio-facio-cutan%C3%A9" title="Syndrome cardio-facio-cutané">syndrome cardio-facio-cutanéomuqueux</a> et <a href="/wiki/Syndrome_de_Costello" title="Syndrome de Costello">syndrome de Costello</a>. </p><p>Le diagnostic prénatal est possible par <a href="/w/index.php?title=Pr%C3%A9l%C3%A8vement_de_trophoblaste&action=edit&redlink=1" class="new" title="Prélèvement de trophoblaste (page inexistante)">prélèvement de trophoblaste</a> ou d’<a href="/wiki/Amniocent%C3%A8se" title="Amniocentèse">amniocentèse</a> mais la mutation doit être connue avant le diagnostic. </p> <div class="mw-heading mw-heading2"><h2 id="Évolution_et_complications"><span id=".C3.89volution_et_complications"></span>Évolution et complications</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Syndrome_de_Noonan&veaction=edit&section=5" title="Modifier la section : Évolution et complications" class="mw-editsection-visualeditor"><span>modifier</span></a><span class="mw-editsection-divider"> | </span><a href="/w/index.php?title=Syndrome_de_Noonan&action=edit&section=5" title="Modifier le code source de la section : Évolution et complications"><span>modifier le code</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Durant l'enfance, le risque de survenue d'une <a href="/wiki/Leuc%C3%A9mie" title="Leucémie">leucémie</a> est un peu plus élevé<sup id="cite_ref-Roberts_2013_4-3" class="reference"><a href="#cite_note-Roberts_2013-4"><span class="cite_crochet">[</span>4<span class="cite_crochet">]</span></a></sup>. Le risque de cancer est sensiblement augmenté chez les syndromes de Noonan porteur d'une mutation sur le gène <i>PTPN11</i><sup id="cite_ref-Jongmans_2011_16-0" class="reference"><a href="#cite_note-Jongmans_2011-16"><span class="cite_crochet">[</span>16<span class="cite_crochet">]</span></a></sup>. </p><p>Il existe un risque majoré d'<a href="/wiki/Ost%C3%A9oporose" title="Ostéoporose">ostéoporose</a> secondaire à l'hypo-œstrogénie<sup id="cite_ref-Takagi_2000_17-0" class="reference"><a href="#cite_note-Takagi_2000-17"><span class="cite_crochet">[</span>17<span class="cite_crochet">]</span></a></sup>. </p><p>L'homme est fréquemment hypofécond, du fait d'une <a href="/wiki/Cryptorchidie" title="Cryptorchidie">cryptorchidie</a> bilatérale, mais aussi d'une dysfonction des <a href="/wiki/Cellule_de_Sertoli" title="Cellule de Sertoli">cellules de Sertoli</a><sup id="cite_ref-Marcus_2008_18-0" class="reference"><a href="#cite_note-Marcus_2008-18"><span class="cite_crochet">[</span>18<span class="cite_crochet">]</span></a></sup>. La femme n'a, en règle générale, pas de problème de fertilité<sup id="cite_ref-Roberts_2013_4-4" class="reference"><a href="#cite_note-Roberts_2013-4"><span class="cite_crochet">[</span>4<span class="cite_crochet">]</span></a></sup>. </p> <div class="mw-heading mw-heading2"><h2 id="Notes_et_références"><span id="Notes_et_r.C3.A9f.C3.A9rences"></span>Notes et références</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Syndrome_de_Noonan&veaction=edit&section=6" title="Modifier la section : Notes et références" class="mw-editsection-visualeditor"><span>modifier</span></a><span class="mw-editsection-divider"> | </span><a href="/w/index.php?title=Syndrome_de_Noonan&action=edit&section=6" title="Modifier le code source de la section : Notes et références"><span>modifier le code</span></a><span class="mw-editsection-bracket">]</span></span></div> <div class="references-small decimal" style="column-width:36em; column-count:2;"><ol class="references"> <li id="cite_note-Andrews-1"><span class="mw-cite-backlink noprint"><a href="#cite_ref-Andrews_1-0">↑</a> </span><span class="reference-text"><abbr class="abbr indicateur-langue" title="Langue : anglais">(en)</abbr> William James, Thimothy Berger et <span class="lang-en" lang="en">Dirk Elston, <i>Andrews' Diseases of the Skin: Clinical Dermatology</i></span>, <abbr class="abbr" title="Dixième">10<sup>e</sup></abbr>  <abbr class="abbr" title="édition">éd.</abbr> Saunders, 2005. <small style="line-height:1em;">(<a href="/wiki/International_Standard_Book_Number" title="International Standard Book Number">ISBN</a> <a href="/wiki/Sp%C3%A9cial:Ouvrages_de_r%C3%A9f%C3%A9rence/0-7216-2921-0" title="Spécial:Ouvrages de référence/0-7216-2921-0"><span class="nowrap">0-7216-2921-0</span></a>)</small>.</span> </li> <li id="cite_note-Curcić-Stojković_1978-2"><span class="mw-cite-backlink noprint"><a href="#cite_ref-Curcić-Stojković_1978_2-0">↑</a> </span><span class="reference-text"><span class="ouvrage" id="1978"><abbr class="abbr indicateur-langue" title="Langue : anglais">(en)</abbr> Curcić-Stojković O, Nikolić L, Obradović D, Krstić A, Radić A, « <cite style="font-style:normal" lang="en">[Noonan's syndrome. (Male Turner's syndrome, Turner-like syndrome)]</cite> », <i><span class="lang-en" lang="en">Med Pregl</span></i>, <abbr class="abbr" title="volume">vol.</abbr> 31(7–8),‎ <time>1978</time>, <abbr class="abbr" title="pages">p.</abbr> <span class="nowrap">299–303</span> <small style="line-height:1em;">(<a href="/wiki/PubMed" title="PubMed">PMID</a> <span class="plainlinks noarchive nowrap"><a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/pubmed/692497">692497</a></span>)</small><span class="Z3988" title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.atitle=%5BNoonan%27s+syndrome.+%28Male+Turner%27s+syndrome%2C+Turner-like+syndrome%29%5D&rft.jtitle=Med+Pregl&rft.date=1978&rft.volume=31%287%E2%80%938%29&rft.pages=299%E2%80%93303&rft_id=info%3Apmid%2F692497&rfr_id=info%3Asid%2Ffr.wikipedia.org%3ASyndrome+de+Noonan"></span></span></span> </li> <li id="cite_note-Noonan_1963-3"><span class="mw-cite-backlink noprint"><a href="#cite_ref-Noonan_1963_3-0">↑</a> </span><span class="reference-text"><abbr class="abbr indicateur-langue" title="Langue : anglais">(en)</abbr> Noonan JA, Ehmke DA, « <span class="lang-en" lang="en">Associated noncardiac malformations in children with congenital heart disease</span> » <i>Midwest Soc Pediatr Res</i>. 1963;63:468-470</span> </li> <li id="cite_note-Roberts_2013-4"><span class="mw-cite-backlink noprint">↑ <sup><a href="#cite_ref-Roberts_2013_4-0">a</a> <a href="#cite_ref-Roberts_2013_4-1">b</a> <a href="#cite_ref-Roberts_2013_4-2">c</a> <a href="#cite_ref-Roberts_2013_4-3">d</a> et <a href="#cite_ref-Roberts_2013_4-4">e</a></sup> </span><span class="reference-text"><abbr class="abbr indicateur-langue" title="Langue : anglais">(en)</abbr> Roberts AE, Allanson JE, Tartaglia M, Gelb BD, <a rel="nofollow" class="external text" href="http://www.thelancet.com/journals/lancet/article/PIIS0140-6736(12)61023-X/abstract">« <span class="lang-en" lang="en">Noonan syndrome</span> »</a>, <i><span class="lang-en" lang="en"><a href="/wiki/The_Lancet" title="The Lancet">Lancet</a></span></i> 2013;381:333-342</span> </li> <li id="cite_note-Tartaglia_2002-5"><span class="mw-cite-backlink noprint"><a href="#cite_ref-Tartaglia_2002_5-0">↑</a> </span><span class="reference-text"><abbr class="abbr indicateur-langue" title="Langue : anglais">(en)</abbr> Tartaglia M, Kalidas K, Shaw A <i><abbr class="abbr" title="et alii (« et d’autres »)" lang="la">et al.</abbr></i> <a rel="nofollow" class="external text" href="http://www.sciencedirect.com/science/article/pii/S0002929707607071">« PTPN11 <span class="lang-en" lang="en">mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity</span> »</a> <i>Am J Hum Genet</i>. 2002;70:1555-1563</span> </li> <li id="cite_note-Aoki_2013-6"><span class="mw-cite-backlink noprint"><a href="#cite_ref-Aoki_2013_6-0">↑</a> </span><span class="reference-text">Aoki Y, Niihori T, Banjo T et al. <a rel="nofollow" class="external text" href="https://www.sciencedirect.com/science/article/pii/S0002929713002346"><i>Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome</i></a>, Am J Hum Genet, 2013; 93:173–180</span> </li> <li id="cite_note-Gripp_2016-7"><span class="mw-cite-backlink noprint"><a href="#cite_ref-Gripp_2016_7-0">↑</a> </span><span class="reference-text">Gripp KW, Aldinger KA, Bennett JT et al. <a rel="nofollow" class="external text" href="https://onlinelibrary.wiley.com/doi/full/10.1002/ajmg.a.37781"><i>A novel rasopathy caused by recurrent de novo missense mutations in PPP1CB closely resembles Noonan syndrome with loose anagen hair</i></a>, Am J Med. Genet A. 2016;170:2237–2247</span> </li> <li id="cite_note-Hanses_2020-8"><span class="mw-cite-backlink noprint"><a href="#cite_ref-Hanses_2020_8-0">↑</a> </span><span class="reference-text">Hanses U, Kleinsorge M, Roos L et al. <a rel="nofollow" class="external text" href="https://www.ahajournals.org/doi/10.1161/CIRCULATIONAHA.119.044794"><i>Intronic CRISPR repair in a preclinical model of Noonan syndrome–associated cardiomyopathy</i></a>, Circulation, 2020;142:1059–1076 </span> </li> <li id="cite_note-Allanson_1987-9"><span class="mw-cite-backlink noprint"><a href="#cite_ref-Allanson_1987_9-0">↑</a> </span><span class="reference-text"><abbr class="abbr indicateur-langue" title="Langue : anglais">(en)</abbr> <span class="lang-en" lang="en">Allanson JE « Noonan syndrome »</span> <i>J Med Genet.</i> 1987;24:9-13</span> </li> <li id="cite_note-Lee_2001-10"><span class="mw-cite-backlink noprint"><a href="#cite_ref-Lee_2001_10-0">↑</a> </span><span class="reference-text"><abbr class="abbr indicateur-langue" title="Langue : anglais">(en)</abbr> Lee CK, Chang BS, Hong YM, Yang SW, Lee CS, Seo JB, « <span class="lang-en" lang="en">Spinal deformities in Noonan syndrome: a clinical review of sixty cases</span> » <i>J <span class="lang-en" lang="en">Bone Joint Surg</span> Am</i>. 2001;83:1495-1502.</span> </li> <li id="cite_note-Marino_1999-11"><span class="mw-cite-backlink noprint"><a href="#cite_ref-Marino_1999_11-0">↑</a> </span><span class="reference-text"><abbr class="abbr indicateur-langue" title="Langue : anglais">(en)</abbr> Marino B, Digilio MC, Toscano A, Giannotti A, Dallapiccola B, <a rel="nofollow" class="external text" href="http://www.sciencedirect.com/science/article/pii/S0022347699700880">« <span class="lang-en" lang="en">Congenital heart diseases in children with Noonan syndrome: an expanded cardiac spectrum with high prevalence of atrioventricular canal</span> »</a> <i>J Pediatr</i>. 1999;135:703-706</span> </li> <li id="cite_note-Lee_2005-12"><span class="mw-cite-backlink noprint">↑ <sup><a href="#cite_ref-Lee_2005_12-0">a</a> et <a href="#cite_ref-Lee_2005_12-1">b</a></sup> </span><span class="reference-text"><abbr class="abbr indicateur-langue" title="Langue : anglais">(en)</abbr> Lee DA, Portnoy S, Hill P, Gillberg C, Patton MA, <a rel="nofollow" class="external text" href="http://onlinelibrary.wiley.com/doi/10.1111/j.1469-8749.2005.tb01037.x/abstract">« <span class="lang-en" lang="en">Psychological profile of children with Noonan syndrome</span> »</a> <i>Dev Med Child Neurol</i>. 2005;47:35-38.</span> </li> <li id="cite_note-Qiu_1998-13"><span class="mw-cite-backlink noprint"><a href="#cite_ref-Qiu_1998_13-0">↑</a> </span><span class="reference-text"><abbr class="abbr indicateur-langue" title="Langue : anglais">(en)</abbr> Qiu WW, Yin SS, Stucker FJ, <a rel="nofollow" class="external text" href="http://oto.sagepub.com/content/118/3/319">« <span class="lang-en" lang="en">Audiologic manifestations of Noonan syndrome</span> »</a> <i>Otolaryngol <span class="lang-en" lang="en">Head Neck</span> Surg</i>. 1998;118:319-323.</span> </li> <li id="cite_note-Sharland_1992_DiC-14"><span class="mw-cite-backlink noprint">↑ <sup><a href="#cite_ref-Sharland_1992_DiC_14-0">a</a> et <a href="#cite_ref-Sharland_1992_DiC_14-1">b</a></sup> </span><span class="reference-text"><abbr class="abbr indicateur-langue" title="Langue : anglais">(en)</abbr> Sharland M, Burch M, McKenna WM, Paton MA, <a rel="nofollow" class="external text" href="http://adc.bmj.com/content/67/2/178">« <span class="lang-en" lang="en">A clinical study of Noonan syndrome</span> »</a> <i>Arch Dis <span class="lang-en" lang="en">Child</span></i>. 1992;67:178-183.</span> </li> <li id="cite_note-Sharland_1992_Lancet-15"><span class="mw-cite-backlink noprint"><a href="#cite_ref-Sharland_1992_Lancet_15-0">↑</a> </span><span class="reference-text"><abbr class="abbr indicateur-langue" title="Langue : anglais">(en)</abbr> Sharland M, Patton MA, Talbot S, Chitolie A, Bevan DH, <a rel="nofollow" class="external text" href="http://www.thelancet.com/journals/unidentified_journal/article/PII0140-6736(92)90141-O/abstract">« <span class="lang-en" lang="en">Coagulation-factor deficiencies and abnormal bleeding in Noonan's syndrome</span> »</a> <i><span class="lang-en" lang="en"><a href="/wiki/The_Lancet" title="The Lancet">Lancet</a></span></i> 1992;339:19-21</span> </li> <li id="cite_note-Jongmans_2011-16"><span class="mw-cite-backlink noprint"><a href="#cite_ref-Jongmans_2011_16-0">↑</a> </span><span class="reference-text"><abbr class="abbr indicateur-langue" title="Langue : anglais">(en)</abbr> Jongmans MC, van der Burgt I, Hoogerbrugge PM <i><abbr class="abbr" title="et alii (« et d’autres »)" lang="la">et al.</abbr></i> <a rel="nofollow" class="external text" href="http://www.nature.com/ejhg/journal/v19/n8/full/ejhg201137a.html">« <span class="lang-en" lang="en">Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation</span> »</a> <i>Eur J Hum Genet</i>. 2011;19:870-874.</span> </li> <li id="cite_note-Takagi_2000-17"><span class="mw-cite-backlink noprint"><a href="#cite_ref-Takagi_2000_17-0">↑</a> </span><span class="reference-text"><abbr class="abbr indicateur-langue" title="Langue : anglais">(en)</abbr> Takagi M, Miyashita Y, Koga M, Ebara S, Arita N, Kasayama S, <a rel="nofollow" class="external text" href="https://link.springer.com/article/10.1007%2Fs002230010040">« <span class="lang-en" lang="en">Estrogen deficiency is a potential cause for osteopenia in adult male patients with Noonan's syndrome</span> »</a> <i>Calcif Tissue Int</i>. 2000;66:200-203.</span> </li> <li id="cite_note-Marcus_2008-18"><span class="mw-cite-backlink noprint"><a href="#cite_ref-Marcus_2008_18-0">↑</a> </span><span class="reference-text"><abbr class="abbr indicateur-langue" title="Langue : anglais">(en)</abbr> Marcus KA, Sweep CG, van der Burgt I, Noordam C, <a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/pubmed/19189703">« <span class="lang-en" lang="en">Impaired Sertoli cell function in males diagnosed with Noonan syndrome</span> »</a> <i>J Pediatr Endocrinol Metab</i>. 2008;21:1079-1084.</span> </li> </ol> </div> <ul id="bandeau-portail" class="bandeau-portail"><li><span class="bandeau-portail-element"><span class="bandeau-portail-icone"><span class="noviewer skin-invert-image" typeof="mw:File"><a href="/wiki/Portail:Handicap" title="Portail du handicap"><img alt="icône décorative" src="//upload.wikimedia.org/wikipedia/commons/thumb/7/76/Wheelchair.svg/22px-Wheelchair.svg.png" decoding="async" width="22" height="24" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/7/76/Wheelchair.svg/33px-Wheelchair.svg.png 1.5x, //upload.wikimedia.org/wikipedia/commons/thumb/7/76/Wheelchair.svg/45px-Wheelchair.svg.png 2x" data-file-width="39" data-file-height="42" /></a></span></span> <span class="bandeau-portail-texte"><a 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