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Related Experiment Video

Updated: Mar 30, 2026

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene
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Fraser Syndrome.

Adnan Aslam Saleem1, Sorath Noorani Siddiqui1

  • 1Department of Pediatric Ophthalmology and Strabismus, AL-Shifa Trust Eye Hospital, Rawalpindi.

Journal of the College of Physicians and Surgeons--Pakistan : JCPSP
|November 3, 2015
PubMed
Summary
This summary is machine-generated.

Fraser Syndrome (FS), a rare genetic disorder, presents with diverse malformations including Cryptophthalmos. This report details a unique case in Pakistan, highlighting diagnostic criteria and prenatal findings.

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Area of Science:

  • Genetics
  • Developmental Biology
  • Clinical Medicine

Background:

  • Fraser Syndrome (FS) is a rare autosomal recessive disorder characterized by a spectrum of congenital malformations.
  • Genetic heterogeneity is observed, with mutations in FRAS1, FREM2, and GRIP1 genes identified as causes.
  • Diagnosis can be established through clinical examination, prenatal ultrasound, or perinatal autopsy.

Observation:

  • A case of Fraser Syndrome in a 3-month-old infant born to consanguineous parents is presented.
  • The infant exhibited bilateral complete Cryptophthalmos (CO), unilateral microphthalmia, hypertelorism, syndactyly, ambiguous genitalia with cryptorchidism, and an umbilical hernia.
  • This represents the first reported case of FS in Pakistan.

Findings:

  • The study outlines diagnostic criteria for Fraser Syndrome.
  • Key features observable on prenatal ultrasonography are detailed.
  • The presented case aligns with the known clinical spectrum of FS, emphasizing the importance of recognizing its diverse manifestations.

Implications:

  • This case expands the geographical reporting of Fraser Syndrome.
  • It underscores the utility of prenatal ultrasound in early diagnosis.
  • Further research into the genetic underpinnings and clinical management of FS is warranted.