Palabras clave
osteoporosis
fracturas óseas
adulto
terapia
bone fractures
adult
therapeutics
Cómo citar
Resumen
La osteogénesis imperfecta (OI) corresponde a un conjunto de trastornos hereditarios del tejido conectivo que tienen como manifestación común la fragilidad ósea. Su etiología es de origen genético y la gran mayoría de casos corresponden a mutaciones autosómicas dominantes de genes que codifican para el colágeno tipo I. Su diagnóstico es primariamente clínico basado en las características típicas de la enfermedad. Reportamos el caso de una mujer con historia de fracturas recurrentes en diferentes ocasiones, y el de su hija de tres años, quien al momento del reporte ya ha presentado dos fracturas.
Abstract
Osteogenesis imperfecta (OI) encompasses a group of inherited connective tissue with bone fragility as its common manifestation. Its etiology is genetic in nature and the vast majority of cases are due to autosomal dominant mutations of genes that code for collagen type I proteins. Diagnosis is primarily based on the typical clinical features of the disease. We report the case of a woman with a history of recurrent fractures at different moments in time, and her three year old daughter who at the moment of this report has already had two fractures.
Citas
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