[Fibular dimelia]

Area of Science:

• Orthopedics
• Medical Genetics
• Developmental Biology

Background:

• Congenital limb abnormalities represent a significant clinical challenge.
• Fibular dimelia, characterized by duplication of the fibula, is exceptionally rare.
• The complete absence of the tibia is exceedingly uncommon, with limited documented cases.

Observation:

• A patient presented with a 19-year history of a rare congenital condition.
• The patient exhibited bilateral absence of the tibia and fibular dimelia.
• Associated anomalies included syndactyly of hands, mirror feet, and severe equinus deformities.

Findings:

• Radiological assessment confirmed the total absence of the tibia and duplication of the fibula.
• Significant polydactyly was noted, with 9 toes on the right and 10 on the left.
• Complex duplications of tarsal and metatarsal bones were present in both feet.

Implications:

• This case highlights the extreme spectrum of fibular dimelia and tibial aplasia.
• Despite severe skeletal anomalies, functional adaptation and independent ambulation were achieved.
• Further research into the genetic and developmental pathways is warranted for understanding and managing such rare conditions.