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Síndrome de Apert - Overview

Nombres alternativos

Acrocefalosindactilia

Definición:

Es una enfermedad genética en la cual las suturas entre los huesos del cráneo se cierran más temprano de lo normal, afectando la forma de la cabeza y la cara.

Causas:

El síndrome de Apert se puede trasmitir de padres a hijos (hereditario). Se hereda como un rasgo autosómico dominante, lo cual significa que basta con que sólo uno de los padres transmita el gen defectuoso para que su hijo tenga la enfermedad.

Algunos casos se pueden presentar sin un antecedente familiar conocido.

El síndrome de Apert es causado por mutaciones en un gen llamado receptor 2 del factor de crecimiento de fibroblastos. Esta anomalía en los genes provoca que algunas de las suturas óseas del cráneo se cierren demasiado temprano, una afección llamada craneosinostosis.

Sindactilia

Reviewed last on: 8/4/2011
Chad Haldeman-Englert, MD, Wake Forest University School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

Referencias

Kinsman SL, Johnston MV. Congenital Anomalies of the Central Nervous System. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 18th Ed. Philadelphia, Pa: Saunders Elsevier; 2007: chap 592.

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