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2013, Número 4

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Acta Med 2013; 11 (4)


Síndrome de Apert

Reséndiz MIA, Nava UE

Idioma: Español
Referencias bibliográficas: 54
Paginas: 173-179
Archivo PDF: 260.43 Kb.


RESUMEN

El síndrome de Apert (SA), también llamado acrocefalosindactilia tipo 1, se caracteriza por el cierre precoz de las suturas craneales (craneosinostosis), sindactilia simétrica de pies y manos y alteraciones de la línea media facial; se puede presentar coeficiente intelectual bajo o normal. Se llega a reportar su frecuencia de aparición tan alta como 1 en 2,100 nacimientos hasta 1 en 160,000 nacidos vivos. La craneosinostosis frontolamboidea es la más comúnmente encontrada en los pacientes con síndrome de Apert, lo que produce un acortamiento asimétrico anteroposterior del cráneo y limita el crecimiento y desarrollo cerebral. Es aceptado que el origen del síndrome de Apert es una mutación puntual esporádica en la gran mayoría de los casos, que produce una ganancia en la función del receptor 2 del factor de crecimiento de los fibroblastos (FGFR2, por sus siglas en inglés). La mutación del receptor 2 del FGF en el síndrome de Apert induce la activación de múltiples vías de señalización que contribuyen a la función anómala de los osteoblastos. Por el momento, el tratamiento disponible es fundamentalmente quirúrgico paliativo, y consta, básicamente, en separar las sinostosis presentes en el cráneo y las sindactilias en los miembros pélvicos y torácicos.


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