Isolated unilateral absent patella and contralateral small patella

Area of Science:

• Orthopedics
• Genetics
• Developmental Biology

Background:

• The patella, or kneecap, is crucial for knee joint function.
• Bilateral absent patella is exceptionally rare as an isolated finding.
• It is often associated with the genetic disorder nail-patella syndrome.

Observation:

• An 18-year-old male patient was evaluated for knee abnormalities.
• The patient presented with a congenitally absent left patella.
• A small, underdeveloped right patella was also noted.

Findings:

• This case presents a rare instance of isolated bilateral patellar anomalies.
• The patient exhibited a complete absence of the left patella and hypoplasia of the right patella.
• These findings deviate from the typical presentation of nail-patella syndrome.

Implications:

• This case expands the understanding of patellar development variations.
• Further research into the genetic and developmental pathways of isolated patellar absence is warranted.
• Clinical awareness of such rare presentations is important for accurate diagnosis and management.