Femur fibula ulna syndrome

Femur fibula ulna (FFU) syndrome is a rare congenital non lethal anomaly which is classically characterised by unilateral limb defects of the femur and fibular or one limb followed by a contralateral defect in the ulna 2. There has however be several variations including bilateral involvement 4.

Pathology

It is sometimes considered to overlap with that of  proximal focal femoral deficiency (PFFD). At the time of writing it has been sub classified up to 4 sub groups. Overall, there may be greater involvement of the upper limbs 6.

Genetics

The exact aetiology is unknown and the occurrence is thought to be sporadic 2. There is not thought to be any relationship with increasing maternal age 2.

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Article information

rID: 16970
System: Obstetrics
Synonyms or Alternate Spellings:
  • Femur-fibula-ulna (FFU) syndrome
  • Femur-fibula-ulna syndrome
  • Femur-fibula-ulna complex
  • Femur-fibula-ulna (FFU) complex
  • FFU complex

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