Resumo

GUTIERREZ-BACA, Wendy; DONGO-CORNEJO, D'karlo  e  ABARCA BARRIGA, Hugo H.. Ultrarare disease frequent in Peru: case reports of FATCO syndrome. Rev. Fac. Med. Hum. [online]. 2023, vol.23, n.2, pp.157-166.  Epub 18-Abr-2023. ISSN 1814-5469.  http://dx.doi.org/10.25176/rfmh.v23i2.5656.

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.

Palavras-chave : fibular aplasia; tibial campomelia; oligosyndactyly; FATCO syndrome. (source: mesh - nlm)..

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