Fraser syndrome with bladder pseudoexstrophy

Area of Science:

• Pediatric Urology
• Clinical Genetics
• Developmental Biology

Background:

• Fraser Syndrome is a rare genetic disorder characterized by craniofacial abnormalities, syndactyly, and cryptophthalmos.
• Urogenital anomalies are frequently associated with Fraser Syndrome, presenting diverse clinical challenges.

Observation:

• A one-year-old female patient presented with Fraser Syndrome.
• The patient exhibited multiple urogenital abnormalities, including clitoromegaly and left renal agenesis.
• A unique variant of bladder exstrophy, termed pseudoexstrophy, was observed, featuring an intact bladder herniating through an abdominal wall defect.

Findings:

• The case illustrates the co-occurrence of Fraser Syndrome and a spectrum of genitourinary malformations.
• The identified pseudoexstrophy represents a rare anatomical variation of bladder exstrophy.
• This presentation underscores the complex interplay between genetic syndromes and congenital urogenital development.

Implications:

• This case expands the understanding of Fraser Syndrome's phenotypic variability, particularly in urogenital manifestations.
• The report provides valuable insights for the diagnosis and management of complex congenital anomalies in pediatric patients.
• Further research into the embryological basis of pseudoexstrophy in Fraser Syndrome is warranted.