Cloacal Exstrophy with Normal Penis and Urethra - A Rare Variant

Area of Science:

• Pediatric Surgery
• Developmental Biology
• Medical Genetics

Background:

• Cloacal exstrophy (CE) is a rare congenital anomaly characterized by a spectrum of defects.
• Classic CE presentation includes omphalocele, bladder exstrophy, imperforate anus, and spinal anomalies.

Observation:

• A rare variant of cloacal exstrophy was observed in a 6-day-old male infant.
• This variant presented with an intact lower abdominal wall, a normal penis, and a normally formed urethra.

Findings:

• The patient exhibited atypical features inconsistent with the classical presentation of cloacal exstrophy.
• This represents a unique clinical manifestation of cloacal exstrophy, with only two prior reports in the literature.

Implications:

• This case underscores the importance of recognizing rare variants in congenital anomalies for accurate diagnosis and management.
• Further research into the genetic and developmental pathways underlying CE variants is warranted.
• Improved understanding of CE variations can aid in surgical planning and patient counseling.