Zusammenfassung
Entwicklungsstörungen des fetalen Skeletts betreffen etwa 1:300 bis 1:250 Feten. Es können einzelne Abschnitte der Extremitäten (Dysmelien) betroffen sein, aber auch das komplette Skelett (Skelettdysplasien) sowie die Schädelknochen (Kraniosynostosen) oder die Wirbelsäule (Segmentationsstörungen). Für die meisten der für sich jeweils seltenen Erkrankungen sind die genetischen Grundlagen (Einzelgenmutationen, chromosomale Aberrationen) bekannt und pränatal zu diagnostizieren.
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Schramm, T. (2018). Skelettsystem. In: Gembruch, U., Hecher, K., Steiner, H. (eds) Ultraschalldiagnostik in Geburtshilfe und Gynäkologie. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-53662-9_12
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