Enfermedad ultra rara frecuente en Perú: Reporte de casos del síndrome fatco
Ultra-rare frequent disease in Peru: Fatco syndrome case report
DOI:
https://doi.org/10.25176/RFMH.v23i2.5656Palabras clave:
Aplasia de fíbula, campomelia de tibia, oligodactilia, síndrome FATCOResumen
El síndrome FATCO (fibular aplasia, tibial camptomelia, oligosyndactyly) está caracterizado por la presencia de anomalías en miembros inferiores. Es una enfermedad, de la cual no se ha precisado la etiología genética hasta la actualidad; sin embargo, se ha planteado que el tipo de herencia es dominante autosómica. La frecuencia de presentación a nivel global es muy rara y esta es la razón principal de los pocos pacientes publicados hasta la fecha.
Existe un reporte de la presentación inusual de catorce pacientes peruanos, diagnosticados en un solo centro, con las características clínicas del síndrome FATCO en un período de 13 años. A la fecha, se han publicado catorce pacientes a nivel mundial, con los cuales se comparó y discutió los datos clínicos y radiológicos. Además, se analizaron las características demográficas, antecedentes familiares, sexo, edad y anomalías concomitantes.
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Derechos de autor 2023 Revista de la Facultad de Medicina Humana
Esta obra está bajo una licencia internacional Creative Commons Atribución 4.0.
