femur fibula ulna syndrome

Femur fibula ulna (FFU) syndrome is a rare congenital non-lethal anomaly which is classically characterized by unilateral limb defects of the femur and fibula of one limb followed by a contralateral defect in the ulna . There have however been several variations described including bilateral involvement .

Pathology

It is sometimes considered to overlap with that of proximal focal femoral deficiency (PFFD). At the time of writing it has been subclassified as up to four subgroups. Overall, there may be greater involvement of the upper limbs .

Genetics

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

Siehe auch:

• Proximaler Femurdefekt

und weiter:

• Mesomele Dysplasie Typ Langer
• Mesomele Dysplasie Typ Verloes-David-Pfeiffer