Zusammenfassung
Syndromale Kraniosynostosen sind insgesamt selten und in vielen Fällen auf genetische Spontanmutationen bestimmter Kandidatengene für die Knochenentwicklung zurückzuführen. In familiären Fällen überwiegen autosomal dominante Erbgänge. Die Diagnosestellung und langfristige Betreuung der betroffenen Patienten ist immer eine interdisziplinäre Aufgabe und oftmals nur nach sorgfältiger humangenetischer Untersuchung möglich. Die Therapieprinzipien richten sich stets nach den häufig variablen phänotypischen Ausprägungen und haben insbesondere eine Dekompression des wachsenden Gehirns und der Orbitastrukturen sowie funktionelle Verbesserungen im Gesichtsbereich zum Ziel.
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Messing-Jünger, A.M., Martini, M. (2018). Syndromale Kraniosynostosen . In: Bächli, H., Lütschg, J., Messing-Jünger, M. (eds) Pädiatrische Neurochirurgie. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-48700-6_31
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