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Fraser syndrome with bladder pseudoexstrophy.

J A Daia1

  • 1Pediatric Division, Department of Urology, King Faisal Specialist Hospital & Research Centre, MBC 83, PO Box 3354, Riyadh 11211, Kingdom of Saudi Arabia.

Saudi Medical Journal
|May 29, 2001
PubMed
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This case study details a one-year-old girl diagnosed with Fraser Syndrome and complex urogenital anomalies. The report highlights a rare variant of bladder exstrophy, termed pseudoexstrophy, in a pediatric patient.

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.

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  • 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.