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Updated: Jul 4, 2026

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene
08:22

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

Published on: September 16, 2019

[Fraser syndrome: case report].

Janaína Saraceno1, Tâmara Lopes, Regina Helena Rathsam Pinheiro

  • 1Instituto Brasileiro de Oftalmologia e Prevenção da Cegueira, Brasil. janasaraceno@hotmail.com

Arquivos Brasileiros De Oftalmologia
|June 3, 2008
PubMed
Summary

Fraser syndrome, a rare genetic disorder, presents with cryptophthalmos, syndactyly, and genital abnormalities. Consanguinity is a significant risk factor, necessitating careful genetic counseling for affected families.

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Area of Science:

  • Genetics
  • Ophthalmology
  • Pediatrics

Background:

  • Fraser syndrome is a rare systemic condition characterized by cryptophthalmos, syndactyly, and abnormal genitalia.
  • It can present as an isolated autosomal dominant trait or part of a more complex autosomal recessive disorder with multiple congenital anomalies.
  • Consanguinity is frequently reported as a significant factor in the pathogenesis of Fraser syndrome.

Observation:

  • A 3-month-old female infant with consanguineous parents presented with Fraser syndrome.
  • Clinical examination revealed unilateral cryptophthalmos, depressed nasal bridge, low-set ears, auditory canal atresia, ambiguous genitalia, and syndactyly.
  • Abdominal and ocular ultrasonography confirmed left renal agenesis and severe ocular abnormalities including retinal detachment.

Findings:

Related Experiment Videos

Last Updated: Jul 4, 2026

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene
08:22

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

Published on: September 16, 2019

  • The case highlights the complex presentation of Fraser syndrome, emphasizing the association between cryptophthalmos and other systemic anomalies.
  • The presence of consanguinity in the family underscores its role in the inheritance pattern of this condition.
  • Detailed ocular and systemic evaluations are crucial for comprehensive diagnosis.

Implications:

  • Early and accurate diagnosis of Fraser syndrome is vital for appropriate patient management and genetic counseling.
  • Increased physician awareness of the clinical spectrum and risk factors is essential for timely intervention.
  • Further research into the pathogenesis of cryptophthalmia is needed to improve understanding and treatment strategies.