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środa, 26 październik 2011 00:00

Zespół Aperta - co to za choroba

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Jest to rzadkie schorzenie genetyczne, które dotyka średnio jedno na 160 tys. dzieci.

Zespół Aperta zalicza się do grupy wrodzonych wad układu kostno-szkieletowego. 
Charakteryzuje się on przedwczesnym zrastaniem kości czaszki, wklęsłą środkową częścią twarzy i zrośniętymi palcami.

Schorzenie to występuje na skutek spontanicznej mutacji genów. 

Mimo tak ewidentnych objawów, zdarza się, że zespół Aperta pozostaje nierozpoznany przed narodzinami dziecka. 

Dziecko z tym zespołem wymaga wielu skomplikowanych operacji min: powiększenie i modelowanie czaszki wraz z oczodołami, wieloetapowe rozdzielanie palców rąk i nóżek, rekonstrukcja szczęki oraz nosa.

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