FATCO syndrome

Case contributed by Ammar Haouimi
Diagnosis almost certain

Presentation

Short right lower limb.

Patient Data

Age: 14 months
Gender: Female
x-ray

The x-rays demonstrate:

  • completely absent right fibula, type II according to Achterman and Kalamchi classification
  • short right tibia with anterior bowing (tibial campomelia)
  • four rays on the right (oligosyndactyly of the right foot)
  • associated short right femur

Case Discussion

Radiographic features most consistent with FATCO syndrome with associated short femur.

FATCO syndrome is of unknown genetic basis and inheritance and consists:

  • FA: fibular aplasia
  • TC: tibial campomelia
  • O: oligosyndactyly

 

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