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El onfalocele es un defecto que presenta la pared abdominal en la base del cordón umbilical (ombligo). El lactante nace con un saco que sobresale a través de ese defecto. Este saco contiene el hígado y los intestinos delgado y grueso.
Con frecuencia, el onfalocele está asociado con otros defectos de nacimiento, tales como defectos en el corazón, defectos genéticos, problemas para orinar y la presencia de ano imperforado (cerrado). El onfalocele es un defecto muy parecido a la gastrosquisis, con la excepción de que, en este caso, los órganos se encuentran contenidos en un saco.

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