Ultra-rare frequent disease in Peru: Fatco syndrome case report: Enfermedad ultra rara frecuente en Perú: Reporte de casos del síndrome fatco

• Autores: Dongo Cornejo, D'Karlo, Gutierrez-Baca, Wendy, Abarca Barriga, Hugo H.
• Formato: artículo
• Fecha de Publicación: 2023
• Institución: Universidad Ricardo Palma
• Repositorio: Revistas - Universidad Ricardo Palma
• Lenguaje: español; inglés
• OAI Identifier: oai:oai.revistas.urp.edu.pe:article/5656
• Enlace del recurso: http://revistas.urp.edu.pe/index.php/RFMH/article/view/5656
• Nivel de acceso: acceso abierto
• Materia: Aplasia de fíbula; campomelia de tibia; oligodactilia; síndrome FATCO; Fibular aplasia; tibial campomelia; oligosyndactyly; FATCO syndrome

The fibular aplasia, tibial campomelia, oligosyndactyly (FATCO) syndrome is characterized by the variable leg anomalies. The genetic etiology of this disease has not been determined to date; however, it has been suggested that the genetic inheritance is autosomal dominant. The frequency of presentation globally is infrequent and this is the main reason for the low number of patient reports. There’s a report of the unusually high presentation of 14 Peruvian patients diagnosed at a single center with the clinical features of FATCO syndrome over a 13-year period. We compare and discuss the clinical and radiological data of our patients with those of the 14 cases described worldwide. In addition, the demographic characteristics, family history, sex, age, and concomitant anomalies are analyzed.