Complete unilateral leg duplication with ipsilateral renal agenesis

Area of Science:

• Medical Genetics
• Developmental Biology
• Pediatric Surgery

Background:

• Caudal duplication syndromes are rare congenital anomalies characterized by the duplication of structures in the lower body.
• The etiology of these syndromes is not fully understood, with various theories proposed, including genetic and environmental factors.

Observation:

• A 5-month-old infant presented with complete duplication of the right leg, ipsilateral renal agenesis, duplicated scrotum, posterior urethral valves with hydronephrosis, abnormal pelvic bones, and a ventricular septal defect.
• This case represents a rare instance of complete unilateral leg duplication with multiple associated congenital anomalies.

Findings:

• The observed combination of defects, including limb duplication and renal agenesis, aligns with the hypothesis of an underlying polytopic (acro-renal) developmental field defect.
• The findings suggest that caudal duplication syndromes may arise from disruptions in early embryonic development, potentially involving a specific developmental field.

Implications:

• Understanding the etiology of caudal duplication syndromes is crucial for genetic counseling and managing associated anomalies.
• Further research into developmental field defects and twinning theories may elucidate the pathogenesis of these complex conditions.
• Surgical intervention for leg duplication in such cases can lead to favorable motor-skeletal functional outcomes.