{"id":449,"date":"2022-02-09T13:44:16","date_gmt":"2022-02-09T12:44:16","guid":{"rendered":"https:\/\/ern-ithaca.eu\/?post_type=expert-centers&p=449"},"modified":"2022-02-23T12:41:31","modified_gmt":"2022-02-23T11:41:31","slug":"ern-ithaca-maastricht-center","status":"publish","type":"expert-centers","link":"https:\/\/ern-ithaca.eu\/fr\/about-us\/expert-centers\/ern-ithaca-maastricht-center\/","title":{"rendered":"ERN-ITHACA \u2013 Maastricht Center"},"content":{"rendered":"
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Maastricht University Medical Center
P. Debyelaan 25
6229 HX Maastricht
NETHERLANDS<\/p>\n\n\n\n

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Site web<\/a><\/div>\n<\/div>\n\n\n\n
<\/div>\n\n\n\n

Plomb<\/h2>\n\n\n\n
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Dr Margje Sinnema<\/strong><\/p>\n\n\n\n

T\u00e9l\u00e9phone<\/strong>: \u00a0+31 43 387 6543<\/a><\/p>\n\n\n\n

E-mail :<\/strong> margje.sinnema@mumc.nl<\/p>\n<\/div>\n<\/div>\n\n\n\n

<\/div>\n\n\n\n

Champ d'application<\/h2>\n\n\n\n

En tant que membre du R\u00e9seau europ\u00e9en de r\u00e9f\u00e9rence (ERN) ITHACA, notre centre est sp\u00e9cialis\u00e9 dans les syndromes se caract\u00e9risant par une d\u00e9ficience intellectuelle (DI) et\/ou des malformations cong\u00e9nitales rares, avec un int\u00e9r\u00eat particulier pour les diff\u00e9rentes formes de malformations craniofaciales. Environ 1 nouveau-n\u00e9 sur 40 pr\u00e9sente une malformation cong\u00e9nitale et jusqu\u2019\u00e0 2% souffrent ou pr\u00e9senteront une d\u00e9ficience intellectuelle, caus\u00e9es par diff\u00e9rentes maladies rares prises individuellement, parmi lesquelles jusqu\u2019\u00e0 50% sont d\u2019origine g\u00e9n\u00e9tique ou g\u00e9nomique. Le champ d\u2019action et le p\u00e9rim\u00e8tre d\u2019expertise du Centre de D\u00fcsseldorf ITHACA comprennent :<\/p>\n\n\n\n

  • plus de 5 500 syndromes dysmorphologiques et d\u2019anomalies cong\u00e9nitales multiples (MCA) (r\u00e9pertori\u00e9s dans la base de donn\u00e9es de dysmorphologie de Londres), comprenant des maladies monog\u00e9niques, des anomalies chromosomiques (d\u00e9tectables par analyse chromosomique conventionnelle et\/ou par la technologie CGH-Array), des anomalies multifactorielles ou sporadiques ainsi que des embryof\u00e9topathies d\u2019origine environnementale<\/li>
  • >1 500 formes monog\u00e9niques et des centaines de formes chromosomiques de d\u00e9ficience intellectuelle, associ\u00e9es ou non \u00e0 un trouble du spectre autistique (TSA).<\/li><\/ul>\n\n\n\n
    <\/div>\n\n\n\n

    Service aux patients<\/h2>\n\n\n\n

    Texte \u00e0 venir<\/p>\n\n\n\n

    <\/div>\n\n\n\n

    Organisation du centre<\/h2>\n\n\n\n

    Texte \u00e0 venir <\/p>","protected":false},"featured_media":0,"template":"","tags":[],"country":[64],"center-status":[15],"class_list":["post-449","expert-centers","type-expert-centers","status-publish","hentry","country-netherlands","center-status-full-member"],"acf":{"name-city":"Maastricht Center","representative":"Dr Margje Sinnema","latitude":"50.851368 ","longitude":"5.690972","keywords-search":""},"yoast_head":"\nERN-ITHACA \u2013 Maastricht Center - ERN ITHACA<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/ern-ithaca.eu\/fr\/about-us\/expert-centers\/ern-ithaca-maastricht-center\/\" \/>\n<meta property=\"og:locale\" content=\"fr_FR\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"ERN-ITHACA \u2013 Maastricht Center - ERN ITHACA\" \/>\n<meta property=\"og:description\" content=\"Maastricht University Medical CenterP. 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