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Bilateral tibial hemimelia I
J Suganthy1, Marina Rassau, Rachel Koshi
1Department of Anatomy, Christian Medical College, Vellore, India. suganthyrabi@cmcvellore.ac.in
Clinical Anatomy (New York, N.Y.)
|October 13, 2006
Summary
This case study details bilateral tibial hemimelia, a rare congenital anomaly where both tibiae are absent. Despite the absence of tibiae and some foot bones, the patient
Area of Science:
- Orthopedics
- Developmental biology
- Medical imaging
Background:
- Congenital absence of the tibia, or tibial hemimelia, is an exceptionally rare limb malformation.
- This condition presents a significant challenge in pediatric orthopedics and reconstructive surgery.
Observation:
- A case of bilateral tibial hemimelia in a 3-year-old boy from phenotypically normal parents is presented.
- Radiographic and anatomical dissection studies were performed on amputated lower limb segments.
- The anomaly involved the complete absence of both tibiae and partial absence of tarsal and metatarsal bones.
Findings:
- Radiography confirmed normal hip joints and femurs, with intact fibulae in both legs.
- Anatomical dissection revealed the presence of key lower leg muscles, including gastrocnemius and soleus.
- Significant digital ray and tarsal bone deficiencies were noted in addition to the tibial absence.
Implications:
- This case highlights the complex skeletal and muscular variations possible in tibial hemimelia.
- Understanding these variations is crucial for surgical planning and prosthetic fitting in affected children.
- Further research into the genetic and developmental factors underlying tibial hemimelia is warranted.
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