An unusual case of polydactyly

Area of Science:

• Orthopedics
• Medical Genetics
• Radiology

Background:

• Polydactyly, the presence of supernumerary digits, is a congenital anomaly with variable population frequency.
• It often occurs with other congenital conditions or deformities, but isolated cases are less common.
• Literature review indicates limited reports on isolated polymetatarsia, and none describing supernumerary digits.

Observation:

• A 21-year-old male presented with ankle pain and a subtle irregularity of the fifth toe, resembling a tailor's bunion.
• Physical examination revealed no other apparent macroscopic deformities.
• Radiographic imaging identified an os tibiale externum, a conjoined extra metatarsal, and a hypoplastic proximal phalanx.

Findings:

• The patient exhibited an isolated case of polydactyly, specifically polymetatarsia, with an extra hypoplastic proximal phalanx forming a bunionette.
• Radiological findings included an os tibiale externum and a fused extra metatarsal bone.
• This presentation is unique, with no identical cases found in a comprehensive literature search.

Implications:

• This case expands the understanding of polydactyly presentations, highlighting the possibility of isolated occurrences without gross deformities.
• It underscores the importance of detailed radiographic examination in diagnosing subtle congenital anomalies.
• Further research into the genetic and developmental pathways of isolated polydactyly and polymetatarsia may be warranted.