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Related Experiment Videos

[Fraser syndrome. A case report].

B Allali1, M Hamdani, H Lamari

  • 1Service d'Ophtalmologie Pédiatrique, Hôpital 20 août 1953, Casablanca. allalibouchra@yahoo.fr

Journal Francais D'Ophtalmologie
|March 9, 2006
PubMed
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Fraser syndrome, a rare genetic disorder, presents with severe congenital anomalies including cryptophthalmos and syndactyly. This case highlights the complex multispecialty care and prenatal diagnostic importance for this condition.

Area of Science:

  • Genetics
  • Pediatrics
  • Ophthalmology

Background:

  • Fraser syndrome is a rare autosomal recessive disorder characterized by cryptophthalmos, syndactyly, laryngeal stenosis, and urogenital abnormalities.
  • Consanguineous marriages are known risk factors for autosomal recessive disorders.

Observation:

  • A newborn presented with multiple congenital abnormalities including ankyloblepharon, cryptophthalmos, syndactyly, anorectal abnormalities, ambiguous genitalia, laryngeal stenosis, and ear malformations.
  • Ophthalmological examination revealed a severely malformed right eye with a non-individualized eyeball and absent anterior chamber.
  • Imaging studies showed renal abnormalities, while cranial and orbital TDM and transfontanel ultrasound were normal.

Findings:

  • The case presentation aligns with the diagnostic criteria for Fraser syndrome.

Related Experiment Videos

  • Surgical findings confirmed the severe ocular malformations, including a rudimentary cornea and iris adhesion.
  • The combination of external and internal malformations underscores the systemic nature of Fraser syndrome.

    • Implications:

    • Early and accurate diagnosis of Fraser syndrome is crucial for timely intervention and management.
    • Multispecialty collaboration is essential for addressing the complex medical needs of affected newborns.
    • Prenatal diagnosis can significantly improve outcomes by allowing for appropriate planning and support.