La Dismorfología como Herramienta para un Diagnóstico Temprano de la Anemia de Fanconi; Dysmorphology as a Tool for Earlier Diagnosis of Fanconi Anemia
Resumen
La anemia de Fanconi es un síndrome de inestabilidad cromosómica que cursa con falla medular, alteraciones dismorfológicas y predisposición a cáncer. Las manifestaciones de esta enfermedad incluyen anomalías del desarrollo que son parte de los acrónimos VACTERL-H y PHENOS. Estas alteraciones pueden detectarse a edades tempranas, incluso antes del inicio de las manifestaciones hemato-oncológicas. Aquí describimos cómo la búsqueda y evaluación de estas manifestaciones puede conducir a un diagnóstico temprano de la anemia de Fanconi.
Fanconi anemia is a chromosome instability syndrome associated with bone marrow failure, physical abnormalities, and cancer predisposition. The Fanconi anemia phenotype includes several morphological anomalies that are part of the VACTERL-H and PHENOS acronyms. These physical alterations can be detected at an early age, even before the onset of hemato-oncological manifestations. Here we describe how to look for and evaluate these manifestations, leading to an early diagnosis of Fanconi anemia.
Citas
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