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Osteogénesis imperfecta - Overview

Nombres alternativos

Enfermedad de los huesos frágiles

Definición:

Es una afección que ocasiona huesos extremadamente frágiles.

Causas:

La osteogénesis u osteogenia imperfecta (OI) es una enfermedad congénita, lo que quiere decir que está presente al nacer. Con frecuencia es causada por un defecto en un gen que produce el colágeno tipo 1, un pilar fundamental del hueso. Existen muchos defectos diferentes que pueden afectar este gen y la gravedad de esta enfermedad depende del defecto específico de dicho gen.

La osteogénesis imperfecta es una enfermedad autosómica dominante, lo que quiere decir que usted la padecerá si tiene una copia del gen. La mayoría de los casos de OI se heredan de uno de los padres, aunque algunos casos son el resultado de nuevas mutaciones genéticas.

Una persona con osteogénesis imperfecta tiene un 50% de posibilidades de transmitirle el gen y la enfermedad a sus hijos.

  • Reviewed last on: 8/2/2011
  • Neil K. Kaneshiro, MD, MHA, Clinical Assistant Professor of Pediatrics, University of Washington School of Medicine. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

Referencias

Marini JC. Osteogenesis imperfecta. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 19th ed. Philadelphia, Pa: Saunders Elsevier; 2011:chap 692.

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