Presentation
Congenital shortening of the right limb.
Patient Data
Age: 20 years
Gender: Female
From the case:
Type II Fibular hemimelia with preaxial polydactyly
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Findings:
The tibia appears significantly shortened and curved.
Agenesis of the fibula.
Tibia dislocated from knee and ankle joints.
Hypoplastic metatarsals and proximal phalanges.
No obvious bony fracture.
Impression:
Features indicate type II fibular agenesis/fibular hemimelia.
Case Discussion
Fibular hemimelia is a congenital anomaly that causes shortening in the limb and knee instability. It is the most common congenital absence of a long bone and has a known association with polydactyly. It can be diagnosed on antenatal ultrasound.
There are two types of fibular hemimelia:
type I is associated with fibular hypoplasia
type II is complete absence of the fibula (as seen in the case)
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